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Gene: Celsr1 MGI:1100883

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Gene Summary

Name:
cadherin, EGF LAG seven-pass G-type receptor 1
Synonyms:
Crsh,  Scy,  Adgrc1,  crash

Order Alleles

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 snout morphology Celsr1Scy HET Early adult 6.48×10-10
female infertility Celsr1em1(IMPC)Mbp HOM Early adult 0.00
abnormal retina morphology Celsr1em1(IMPC)Mbp HET   Early adult 1.99×10-05
increased brain size Celsr1em1(IMPC)Mbp HET Early adult 0.00
abnormal head morphology Celsr1Crsh HET Early adult 1.26×10-11
abnormal brain morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Celsr1em1(IMPC)Mbp HET Early adult 0.00
cataract Celsr1em1(IMPC)Mbp HET   Early adult 3.10×10-05
male infertility Celsr1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Celsr1em1(IMPC)Mbp HET E18.5 0.00
decreased lean body mass Celsr1Crsh HET Early adult 7.16×10-09
decreased circulating cholesterol level Celsr1Scy HET Early adult 5.62×10-05
increased lean body mass Celsr1Scy HET Early adult 2.67×10-08
increased total body fat amount Celsr1Scy HET Early adult 1.57×10-08
abnormal spleen morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00
abnormal tail morphology Celsr1em1(IMPC)Mbp HOM E18.5 0.00
abnormal vitreous body morphology Celsr1em1(IMPC)Mbp HET   Early adult 3.28×10-05
corneal opacity Celsr1Crsh HET   Early adult 2.56×10-05
enlarged testis Celsr1em1(IMPC)Mbp HET Early adult 0.00
abnormal startle reflex Celsr1Scy HET Early adult 3.35×10-05
increased circulating cholesterol level Celsr1Scy HET Early adult 4.78×10-06
decreased circulating amylase level Celsr1Scy HET Early adult 6.46×10-06
no spontaneous movement Celsr1em1(IMPC)Mbp HOM E18.5 0.00
increased circulating HDL cholesterol level Celsr1Scy HET Early adult 9.37×10-06
preweaning lethality, incomplete penetrance Celsr1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal testis morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Gross Morphology Embryo E18.5

Images

11 Images

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Human diseases caused by Celsr1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Celsr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 9
Tortuous lymphatic vessels OMIM:619319

The table below shows human diseases predicted to be associated to Celsr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Dermoids Of Cornea
Corneal opacity OMIM:304730
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, EEG abnormality, Periodontitis, Sp... ORPHA:1008
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Tuberculosis
Abnormal lung morphology ORPHA:3389
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Distal Duplication 14Q
Abnormal lung lobation ORPHA:1705
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Cupped ear, Upper eyeli... OMIM:167730
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Morquio Syndrome C
Corneal opacity OMIM:252300
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Treacher Collins Syndrome 4
Conductive hearing impairment, Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Infertility, Cataract OMIM:300719
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Aplasia/Hypoplasia of the earlobes, Eyelid colob... ORPHA:1104
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... OMIM:612526
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Lower eyelid coloboma, Upper eyelid coloboma, Anotia, Microtia, Macrotia, Downslanted... OMIM:616462
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Barber-Say Syndrome
Ablepharon, Telecanthus, Abnormal pinna morphology, Hearing impairment, Sparse or absent eyelashe... ORPHA:1231
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Oculoauriculofrontonasal Syndrome
Encephalocele, Conductive hearing impairment, Upper eyelid coloboma, Microtia, Limbal dermoid ORPHA:398156
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Galactosialidosis
Corneal opacity ORPHA:351
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608636
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Eyelid coloboma, Low-set ears, Eth... OMIM:607597
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal repetitive mannerisms, Hydrocephalus, Attention deficit hyperactivity ... OMIM:618709
Oculocerebrocutaneous Syndrome
Cryptorchidism, Orbital encephalocele, Orbital cyst, Eyelid coloboma OMIM:164180
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Myotonic Dystrophy 1
Frontal balding, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive t... OMIM:160900
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Ectropion of lower eyelids, Cupped ear, Eyelid coloboma, Micro... ORPHA:246
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Frontonasal Dysplasia 3
Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Upper eyelid coloboma, Low-set ears OMIM:613456
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Intention tremor OMIM:610539
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Neu-Laxova Syndrome 2
Low-set ears, Ablepharon, Spina bifida OMIM:616038
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch... OMIM:616267
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Fraser Syndrome 3
Hydrocephalus, Stillbirth, Low-set ears, Cryptophthalmos, Simple ear OMIM:617667
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Pineocytoma
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Dysphagia, Atrophy/Degeneration affecting the brainstem, Recurrent hand flapp... OMIM:617862
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Fried Syndrome
Hydrocephalus, Macrotia, Aggressive behavior, Hearing impairment ORPHA:85335
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Low-set ears, Macrotia, Abnormal re... OMIM:609425
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Central Precocious Puberty In Male
Acne, Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Hydrocephalus,... ORPHA:649929
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis OMIM:601612
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Aggressive behavior, Athetosis, Self-injurious behavior, ... ORPHA:382
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly OMIM:604213
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Optic atrophy OMIM:617830
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Sensorineural hearing impairment, Optic at... OMIM:222300
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Richieri-Costa/Guion-Almeida Syndrome
Ptosis, Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Hearing impairment OMIM:268850
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Frontofacionasal Dysplasia
Encephalocele, Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner... ORPHA:1791
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis ORPHA:71518
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Hydrocephalus, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular at... OMIM:235200
Partington Syndrome
Macroorchidism ORPHA:94083
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Cupped ear, Lower eyelid coloboma, Protruding ear, Microtia, Low-set ears, Cond... OMIM:616367
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Bartsocas-Papas Syndrome 1
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Bilateral cryptorchidism... OMIM:263650
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Self-injurious behavior, Low-set ears, Bruxism, Brain atrophy, Abnormal repetitive... OMIM:618718
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Teebi Hypertelorism Syndrome 2
Hearing impairment, Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... OMIM:305400
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Winchester Syndrome
Corneal opacity OMIM:277950
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Aggressive behavior, EEG abnormality, Inappropriate laughter, Bruxism, Abnormal repetitive manner... OMIM:619150
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Optic atrophy, Hypsarrhythmia, Low-set ears, Self-mutilation OMIM:300884
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Pericardial And Diaphragmatic Defect
Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Pulmonary h... ORPHA:2257
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Pick Disease Of Brain
Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor... OMIM:172700
Nager Syndrome
Low-set, posteriorly rotated ears, Sparse lower eyelashes, Hearing impairment, Lower eyelid colob... ORPHA:245
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Burn-Mckeown Syndrome
Conductive hearing impairment, Lower eyelid coloboma, Protruding ear, Blepharophimosis, Short pal... OMIM:608572
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... OMIM:619690
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... OMIM:208920
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
47,Xyy Syndrome
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin... ORPHA:8
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:1046
N-Acetylaspartate Deficiency
Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Pulmonary hypoplasia OMIM:615415
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Sensorineural hear... OMIM:157640
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Thanatophoric Dysplasia
Pulmonary hypoplasia ORPHA:2655
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hypospadias, Attention deficit hyperactivity disorder ORPHA:250994
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Abcd Syndrome
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... OMIM:600501
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Ablepharon Macrostomia Syndrome
Ablepharon, Absent eyebrow, Absent eyelashes, Microtia, Atresia of the external auditory canal, U... ORPHA:920
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia OMIM:612069
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Optic atrophy, Dandy-Walker malformation ORPHA:1538
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Manitoba Oculotrichoanal Syndrome
Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos OMIM:248450
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Fraser Syndrome 1
Encephalocele, Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Cryptorchidism, Myelo... OMIM:219000
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Ravine Syndrome
Abnormal auditory evoked potentials, Anorexia ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atrophy OMIM:617820
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Holoprosencephaly 5
Syntelencephaly, Central diabetes insipidus, Alobar holoprosencephaly, Synophrys, Hydrocephalus, ... OMIM:609637
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Hyperuricemia, Action tremor ORPHA:77296
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity ORPHA:254531
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca... OMIM:616222
Bresek Syndrome
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Protrudin... ORPHA:85284
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Neu-Laxova Syndrome 1
Ablepharon, Spina bifida, Absent eyelashes, Cryptorchidism, Stillbirth, Short umbilical cord, Sma... OMIM:256520
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Rod-cone d... ORPHA:363741
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Juvenile cataract OMIM:300055
Oculocerebrocutaneous Syndrome
Hearing impairment, External ear malformation, Cryptorchidism, Hydrocephalus, Eyelid coloboma, Pt... ORPHA:1647
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R... OMIM:602271
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Neuronal loss in centra... OMIM:600795
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:618316
Morm Syndrome
Micropenis, Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat... ORPHA:180229
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ablepharon, Microtia, third degree, Hypoplasia of eyelid, Absent eyelashes, Low-s... OMIM:200110
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia OMIM:620306
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
EEG with burst suppression, Hydrocephalus OMIM:266100
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology ORPHA:2570
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Toriello-Lacassie-Droste Syndrome
Epicanthus, Telecanthus, Aganglionic megacolon, Blepharophimosis, Abnormality of the ear, Eyelid ... ORPHA:3339
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Bartsocas-Papas Syndrome
Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid coloboma, Aplasia/Hypopl... ORPHA:1234
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Posteriorly rotated ears, Exencephaly, Eyelid coloboma, Low-set ears, Downslanted ... ORPHA:2211
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Congenital Hydrocephalus
Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Colpoce... ORPHA:2185
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Fragile X Syndrome
Macroorchidism ORPHA:908
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Arthritis, Infertility, Erectil... ORPHA:465508
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Jeune Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:474
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... ORPHA:275864
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Hydrocephalus, Low poster... ORPHA:2183
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Nail dystrophy OMIM:618165
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Gómez-López-Hernández Syndrome
Hydrocephalus, Alopecia of scalp, Low-set ears ORPHA:1532
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Sparse scalp hair, Cryptorchidism, Hydrocephalus, Low posterio... ORPHA:2701
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Pulmonary hypoplasia OMIM:314390
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Diamond-Blackfan Anemia 11
Stenosis of the external auditory canal, Eyelid coloboma, Atresia of the external auditory canal OMIM:614900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Pulmonary hypoplasia OMIM:616897
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Pulmonary hypoplasia ORPHA:96179
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, Failure to thrive... ORPHA:528
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder ORPHA:261102
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Synophrys, Abnormality of the outer ear, Self hu... OMIM:182290
Galactokinase Deficiency
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole... ORPHA:79237
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Scimitar Syndrome
Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re... ORPHA:185
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Bruxism, Cerebral atrophy, Agitation, Dysphagia, Abnormal re... OMIM:617435
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs ORPHA:93298
Fraser Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Death in infancy, External ear malformation, Cr... ORPHA:2052
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:2635
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:607765
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Eczema, Highly arched eyebrow, Repetitive compulsive behavior, Cryptorchidism, Low... ORPHA:352490
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Sensorineural hearing impairment, Prot... OMIM:618342
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Momo Syndrome
Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Underfolded helix OMIM:157980
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, A... OMIM:204000
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Tics, Attentio... OMIM:617788
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis ORPHA:1784
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes... OMIM:277460
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Cerebral atrophy, Self-injurious behavior, Compulsive behaviors, Abnormal rep... OMIM:618917
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs ORPHA:93299
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Umbilical hernia, Upper eyelid coloboma, Abnormal eyelid morphology ORPHA:2095
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Autosomal Dominant Spastic Ataxia Type 1
Tremor, Jerky head movements, Dysphagia, Dystonia ORPHA:251282
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Severe conductive hearing i... ORPHA:90646
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Cra... OMIM:229400
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Inappropriate laughter, Thickened helices, Macrotia, Ab... OMIM:614104
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Hypospadias, Eczema, Highly arched eyebrow, Congenital sensorineural hearing i... ORPHA:500159
Kagami-Ogata Syndrome
Pulmonary hypoplasia OMIM:608149
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Hypospadias, Eczema, Highly arched eyebrow, Synophrys, S... OMIM:617751
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract... ORPHA:3156
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Episodic Ataxia Type 4
Abnormal head movements, Vertigo ORPHA:79136
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Sparse eyebrow, Conductive heari... ORPHA:306542
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Jacobsen Syndrome
Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Hydrocephalus, Optic atroph... OMIM:147791
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Long eyelashes, Cryptophthalmos OMIM:615877
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Edinburgh Malformation Syndrome
Frontal hirsutism, Hydrocephalus OMIM:129850
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Diencephalic Syndrome
Hydrocephalus, Macrotia, Optic atrophy, Long penis, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Fraser Syndrome 2
Atresia of the external auditory canal, Cryptophthalmos, Low-set ears OMIM:617666
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Choreoathetosis, Dystonia, Jerky head movements OMIM:245348
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia OMIM:231680
Lesch-Nyhan Syndrome
Self-injurious behavior, Testicular atrophy, Podagra, Dysphagia OMIM:300322
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... ORPHA:231169
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia OMIM:151210
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Postaxial Acrofacial Dysostosis
Cryptorchidism, Cupped ear, Eyelid coloboma, Low-set ears, Conductive hearing impairment, Downsla... OMIM:263750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Wide nasal bridge, Hypocholesterolemia OMIM:618810
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms, Hearing impairment OMIM:616351
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hydrocephalus, Long eyelas... OMIM:609757
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Optic atrophy, Hearing impairment OMIM:615191
Krabbe Disease
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, EEG abnormality, Increased CSF... OMIM:245200
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Sensorineural ... OMIM:600430
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Cerebral atrophy OMIM:617393
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
4Q21 Microdeletion Syndrome
Synophrys, Self-injurious behavior, Long eyelashes, Low-set ears, Abnormal repetitive mannerisms,... ORPHA:238750
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Congenital Myopathy 17
Respiratory tract infection, Pulmonary hypoplasia OMIM:618975
6P22 Microdeletion Syndrome
Overfolded helix, Hydrocephalus, Low-set ears, Hearing impairment ORPHA:251046
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... ORPHA:3306
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Asymmetry of the ears, Sparse eyebrow, Cryptorchidism, Synophrys, Cupped ear, EEG ab... ORPHA:3063
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia OMIM:251230
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation, Macrotia OMIM:300558
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Brain atrophy, Low-set ears, Overfolded helix, Abnormal repetitive mannerisms OMIM:619092
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity ORPHA:96184
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Cardiomegaly ORPHA:324410
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Weight loss ORPHA:317
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Diaphanospondylodysostosis
Pulmonary hypoplasia OMIM:608022
Treacher Collins Syndrome 2
Lower eyelid coloboma, Fusion of middle ear ossicles, Anotia, Microtia, Conductive hearing impair... OMIM:613717
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Pulmonary h... OMIM:601186
Christianson Syndrome
Cerebellar atrophy, Macrotia, Inappropriate laughter, Dysphagia, Neuronal loss in central nervous... ORPHA:85278
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia ORPHA:1865
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Sensorineural hearing impairment, Optic atrophy, Hydrocephalus ORPHA:99947
Mucolipidosis Iv
Corneal opacity, Opacification of the corneal stroma OMIM:252650
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Eyelid coloboma, Anotia, Microtia, Atresia of the external auditory canal, Hearing... ORPHA:268249
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Momo Syndrome
Epicanthus, Eyelid coloboma, Downslanted palpebral fissures, Underfolded helix ORPHA:2563
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal ... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, CSF pleocytosis, Multifocal epileptiform dis... ORPHA:363558
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Absent eyelashes, Cryptorchidism, Blepharospasm, Eyelid colobom... ORPHA:861
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Meckel Syndrome 14
Pneumothorax, Pulmonary hypoplasia OMIM:619879
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Abnormal auditory evoked potentials, Ventriculom... OMIM:109120
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Synophrys, Low anterior hairline, Multifocal epileptiform discharges, Hypsar... ORPHA:411986
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty ORPHA:141333
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Lower eyelid coloboma, Upper eyel... OMIM:154500
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Genitopatellar Syndrome
Pulmonary hypoplasia ORPHA:85201
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia ORPHA:2260
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Sensorineural hearing impairment, Hyd... OMIM:304340
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract OMIM:618815
Intellectual Developmental Disorder, Autosomal Recessive 68
Synophrys, Hydrocephalus, Broad eyebrow, Protruding ear OMIM:618302
Wildervanck Syndrome
Meningocele ORPHA:3456
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Scalp-Ear-Nipple Syndrome
Telecanthus, Palpebral edema, Underdeveloped antitragus, Abnormal antihelix morphology, Eyelid co... ORPHA:2036
Distal Triplication 15Q
Pulmonary hypoplasia ORPHA:314588
Sweeney-Cox Syndrome
Uplifted earlobe, Bilateral cryptorchidism, Cupped ear, Upper eyelid coloboma, Microtia, Low-set ... OMIM:617746
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, At... ORPHA:10
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia, Macrotia, Abnormal ... OMIM:617695
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... ORPHA:99050
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Se... ORPHA:3085
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Shukla-Vernon Syndrome
Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A... OMIM:301029
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pulmonary hypoplasia OMIM:263200
Joubert Syndrome 15
Exencephaly OMIM:614464
Mosaic Trisomy 16
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Skin rash ORPHA:26
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Anomalous pulmonary venous return ORPHA:1120
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... ORPHA:141099
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Cryptorchidism, Hydrocephalus, Eyelid coloboma OMIM:613001
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus ORPHA:73256
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Low-set ears, Abnormal repetitive manneri... OMIM:613443
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Bilateral cryptorchidism, Hypothyroidism, Synophrys, Sensor... OMIM:617796
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Wide nasal bridge, Obesity, Hypercholesterole... ORPHA:819
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:858
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Death in infancy, Epicanthus, Ectropion, Spina bifida, Cryptor... ORPHA:2308
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Dilated third ventricle, Cryptorchidism, Hydrocephalus, Hypogon... ORPHA:500055
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Meacham Syndrome
Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary venous connection, P... OMIM:608978
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... ORPHA:273
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... ORPHA:412
Progressive Supranuclear Palsy-Corticobasal Syndrome
Tremor, Jerky head movements, Dysphagia, Focal dystonia ORPHA:240103
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Xq28 (MECP2) duplication
Macrotia, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Posteriorly rotated ears, Underdeveloped antitragus, An... OMIM:181270
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... OMIM:248370
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, O... ORPHA:1528
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Recurrent pneumonia, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:615637
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Humero-Radial Synostosis
Meningocele ORPHA:3265
Congenital Disorder Of Glycosylation, Type Ia
Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Steatorrhea, Hypoalbu... OMIM:212065
Baker-Gordon Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, EEG abnormality OMIM:618218
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,... ORPHA:90790
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Congenital Tracheomalacia
Pneumonia, Pneumothorax, Partial anomalous pulmonary venous return, Bronchiectasis, Recurrent upp... ORPHA:95430
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cry... OMIM:123450
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Synophrys, Macrotia, Abnorma... ORPHA:391307
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials, Low posterior hairline, Long e... OMIM:617523
Papillary Tumor Of The Pineal Region
Hearing abnormality, Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Coffin-Siris Syndrome 7
Sparse scalp hair, Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears,... OMIM:618027
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs ORPHA:93274
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... ORPHA:254516
Intellectual Developmental Disorder, Autosomal Dominant 65
Posteriorly rotated ears, Aggressive behavior, Synophrys, Noncommunicating hydrocephalus, Low pos... OMIM:619320
Developmental And Epileptic Encephalopathy 64
Ventriculomegaly, Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Self-injurious be... OMIM:618004
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia OMIM:619351
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ... OMIM:603552
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia OMIM:619148
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Synophrys, Fine hair,... OMIM:619428
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Ventriculomegaly, Posteriorly rotated ears, Aggressive behavior, H... OMIM:619833
Gaucher Disease, Perinatal Lethal
Pulmonary hypoplasia OMIM:608013
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Trisomy 20P
Macroorchidism, Cryptorchidism, Hypospadias ORPHA:261318
Achondrogenesis, Type Ia
Pulmonary hypoplasia OMIM:200600
Transketolase Deficiency
Seborrheic dermatitis, Secondary amenorrhea, Uveitis, Self-injurious behavior, Conjunctivitis, At... ORPHA:488618
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia ORPHA:1692
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Dysphagia, Dandy-Walker ... ORPHA:163961
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Cerebral atrophy, Bilateral conductive hearing impairment, Low-set ears, Dysp... OMIM:617802
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Foxg1 Syndrome
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism ORPHA:561854
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Long eyelashes, Hypoplastic female external genitalia, Ventriculom... OMIM:618577
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Sparse eyelashes, Posteriorly rotated ears, Highly arched eyebrow, Hypospadias... OMIM:619293
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Albers-Schönberg Osteopetrosis
Osteomyelitis, Facial palsy, Mandibular osteomyelitis, Hydrocephalus, Osteoarthritis, Optic atrop... ORPHA:53
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Cerebral cortical atrophy ORPHA:85277
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Charge Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Facial palsy, Highly arched eyebrow, Hearing impai... ORPHA:138
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Recurrent skin infections, Repetitive compulsive behavior, Abnormality of the ... ORPHA:391372
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Spinal dysraphism, Microtia, Mi... ORPHA:1926
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
5Q14.3 Microdeletion Syndrome
Ventriculomegaly, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Thick eyebrow ORPHA:228384
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Emphysema, Peripheral pulmonary artery st... OMIM:613177
Arachnoiditis
Hydrocephalus, Tinnitus, Hearing impairment ORPHA:137817
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly OMIM:603194
Congenital Myopathy 22B, Severe Fetal
Pleural effusion, Pulmonary hypoplasia OMIM:620369
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs ORPHA:2549
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Decreased response to growth hormone stimulation test, Micropenis, Mac... ORPHA:457240
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Optic atrophy, Microtia, Hearing impairment ORPHA:1914
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Aggressive behavior, Impulsivity, Synophrys,... OMIM:619312
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Synophrys, Sensorineural hearing impairme... OMIM:619260
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Ritscher-Schinzel Syndrome 4
Curly hair, Impulsivity, Aggressive behavior, Cryptorchidism, Mild fetal ventriculomegaly, Dyspha... OMIM:619435
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Abnormal repetitive mannerisms, Cerebral cortical atrophy ORPHA:280763
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... OMIM:300578
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Sparse eyebrow, Hydrocephalus, Tubulointerstitial nephritis, Attention deficit... ORPHA:459061
Prune Belly Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:2970
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Impulsivity, Aggressive behavior, Tongue thrusting, Extra-axial cerebrospinal fluid accumulation,... OMIM:619580
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Ventriculomegaly, Low-set ears, CSF lymphocytic pleiocytosis OMIM:610333
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Stenosis of the external auditory canal, Hydrocephalus, Low-set ears ORPHA:1516
Branchioskeletogenital Syndrome
Attached earlobe, Telecanthus, Mixed hearing impairment, Highly arched eyebrow, Synophrys, Large ... ORPHA:1299
Macrocephaly-Developmental Delay Syndrome
Recurrent pneumonia, Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive... ORPHA:397612
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus OMIM:210350
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Harel-Yoon Syndrome
Corneal opacity, Developmental cataract OMIM:617183
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hypoplasia ORPHA:991
Developmental And Speech Delay Due To Sox5 Deficiency
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... ORPHA:313892
Autosomal Recessive Multiple Pterygium Syndrome
Pulmonary hypoplasia ORPHA:2990
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Constricting Bands, Congenital
Encephalocele, Eyelid coloboma OMIM:217100
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Posteriorly rotated ears, Facial palsy, Bilateral ptosis, Cryptorchidism, Ectropion o... OMIM:615873
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:208500
Crouzon Syndrome
Hydrocephalus, Optic atrophy, Conjunctivitis, Conductive hearing impairment, Narrow internal audi... ORPHA:207
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Optic Pathway Glioma
Papilledema, Precocious puberty, Vertigo, Hydrocephalus, Optic atrophy ORPHA:2086
Faundes-Banka Syndrome
Epicanthus, Conductive hearing impairment, Cryptorchidism, Cupped ear, Hypoplasia of the lower ey... OMIM:619376
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Edinburgh Malformation Syndrome
Synophrys, Hydrocephalus, Low posterior hairline, Low-set ears, Generalized hirsutism, Hirsutism ORPHA:1895
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Microphallus, Micropenis, Macrotia, Abnormal repeti... OMIM:300486
Neuhauser Syndrome
Hypercholesterolemia, Wide nasal bridge OMIM:249310
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Microtia, Low-set ears, Micropenis ORPHA:171839
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Attention deficit hyperactivity disorder, Dystonia, Abnormal repetitive mannerism... OMIM:619725
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Posteriorly rotated ears, Aganglionic megacolon, Aqueductal stenosis, Hyd... OMIM:154400
Kleeblattschaedel
Hydrocephalus OMIM:148800
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypoplasia of the... ORPHA:3163
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Hydrocephalus, Bronchiectasis, Recurrent otitis media, Chro... ORPHA:244
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, Astigmatism, Rod-cone ... OMIM:615986
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... ORPHA:744
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Hirsutism, Ventriculomegaly OMIM:175700
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonary hypoplasia, Pulm... ORPHA:980
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Wide nasal bridge ORPHA:2479
Diaphragmatic Hernia 4, With Cardiovascular Defects
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window OMIM:620025
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa... ORPHA:90674
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bicornuate uterus OMIM:258320
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Hydrocephalus, Optic atrophy, Inflammatory abnormality of the eye ORPHA:93262
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Sialidosis Type 2
Corneal opacity ORPHA:87876
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Hearing impai... ORPHA:77298
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Huntington Disease-Like 1
Abnormal head movements, Restlessness, EEG abnormality, Jerky head movements, Ventriculomegaly ORPHA:157941
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal location of ears, Ventriculomegaly OMIM:218350
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pulmonary hypoplasia OMIM:214100
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Adams-Oliver Syndrome 2
Alopecia, Hydrocephalus, Low anterior hairline, Optic atrophy, Protruding ear, Lateral ventricle ... OMIM:614219
Kleefstra Syndrome 1
Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorchidism, Synophrys, Compulsiv... OMIM:610253
Isolated Arrhinia
Eyelid coloboma, Microtia ORPHA:1134
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia OMIM:208540
Ogden Syndrome
Abnormal head movements, Ventriculomegaly, Cryptorchidism, Fine hair, Low-set ears, Macrotia, Apl... ORPHA:276432
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Abnormal pinna morphology, Hydrocephalus, Vertigo, Small pituitary gland, Seve... OMIM:614195
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Cerebellar ver... OMIM:618347
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Obesity ORPHA:69663
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-set ears,... OMIM:618430
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:616300
H Syndrome
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Psoriasiform dermatitis, Hydrocephalus,... ORPHA:168569
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma... ORPHA:3384
Scheie Syndrome
Corneal opacity OMIM:607016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity OMIM:613153
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Short-Rib Thoracic Dysplasia 12
Atelectasis, Pulmonary hypoplasia OMIM:269860
Muenke Syndrome
Hypopigmentation of hair, Hydrocephalus, Sensorineural hearing impairment ORPHA:53271
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... ORPHA:264580
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent otitis media, Hypogonadism, Low-set ea... ORPHA:96170
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Disp... ORPHA:1727
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Ventriculomegaly OMIM:602501
Esophageal Atresia
Recurrent respiratory infections, Pulmonary hypoplasia, Bronchitis ORPHA:1199
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Optic atrophy ORPHA:352682
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Compulsive... ORPHA:401777
Raine Syndrome
Pulmonary hypoplasia OMIM:259775
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentra... OMIM:616034
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Alg12-Cdg
Hyponatremia, Abnormal adipose tissue morphology, Hypoalbuminemia, Camptodactyly, Failure to thri... ORPHA:79324
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:263520
Alpha-Mannosidosis
Cataract, Corneal opacity ORPHA:61
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity OMIM:166300
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Fish-Eye Disease
Corneal opacity ORPHA:79292
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Multiple Sulfatase Deficiency
Thick eyebrow, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Coarse hair, Abnor... ORPHA:585
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Posteriorly rotated ears, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Hydrocepha... OMIM:619951
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Eyelid coloboma, Lop ear, Telecanthus ORPHA:140952
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Stuve-Wiedemann Syndrome 1
Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia OMIM:601559
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Tarp Syndrome
Pulmonary hypoplasia ORPHA:2886
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... ORPHA:14
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Intellectual Developmental Disorder, Autosomal Dominant 38
Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ears, Bruxi... OMIM:616393
Fg Syndrome Type 1
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Sensorineural hearing impairment, Cupped ear... ORPHA:93932
Congenital Muscular Dystrophy, Fukuyama Type
EEG abnormality, Hydrocephalus, Optic atrophy, Ventriculomegaly ORPHA:272
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Optic nerve hypoplasia, Highly arched eyebrow, Hearing impairment OMIM:620157
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Pulmonary hypoplasia OMIM:308050
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... ORPHA:2969
Intermediate Uveitis
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... ORPHA:279914
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretinal coloboma, I... ORPHA:139471
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Low-set ears OMIM:220220
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Synophrys, Low anterior hairline, Hirsutism, Self-injurious behavior, Fronta... OMIM:617061
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Low-set ears, Chronic oral candidiasis, Recurren... OMIM:609029
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... ORPHA:158029
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Developmental And Epileptic Encephalopathy 6B
Abnormal repetitive mannerisms, Multifocal epileptiform discharges, EEG with spike-wave complexes... OMIM:619317
Hurler-Scheie Syndrome
Corneal opacity ORPHA:93476
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Neurotrophic Keratopathy
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... ORPHA:137596
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Highly arched eyebrow, Aggressive behavio... ORPHA:261494
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Head-banging, Self-injurious behavior, Lateral v... OMIM:619575
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias, Hearing impairment OMIM:601499
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity disorder... OMIM:619103
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Pontocerebellar Hypoplasia, Type 7
Ventriculomegaly, Cryptorchidism, Synophrys, Hydrocephalus, Optic atrophy, Low-set ears, Ambiguou... OMIM:614969
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Prominent antihelix, Optic atrophy, Abnormal repetitive mannerisms OMIM:617807
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Low posterior hairline, Self-injurious behavior, Compulsive behaviors, ... OMIM:613174
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasi... OMIM:244400
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... ORPHA:90041
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia OMIM:617063
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Thick eyebrow, Ventriculomegaly, Hydrocephalus, Optic atrophy, EEG abnormality, Lo... OMIM:617281
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Pulmonary hypoplasia OMIM:617925
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... OMIM:607485
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Multiple Pterygium Syndrome, Escobar Variant
Pulmonary hypoplasia OMIM:265000
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsa... ORPHA:457351
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity ORPHA:281090
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,... OMIM:610125
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Chronic otitis media, Abnormal repetitive mannerisms, Aplasia/hyp... ORPHA:96121
Kaufman Oculocerebrofacial Syndrome
Short nose, Failure to thrive, Hypocholesterolemia OMIM:244450
Nasu-Hakola Disease
Hydrocephalus, Disinhibition, Ventriculomegaly ORPHA:2770
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Repetitive compulsive behavior, Cryptorchidism, Dysphagia, Low-set ears, Bruxism, Ma... OMIM:300260
Rett Syndrome
Increased CSF lactate, EEG abnormality, Agitation, Abnormal autonomic nervous system physiology, ... ORPHA:778
Blepharocheilodontic Syndrome 1
Sparse hair, Neural tube defect, High anterior hairline, Distichiasis OMIM:119580
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, External genital hypoplasia, Sensorineural hearing... ORPHA:79330
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs ORPHA:1860
Huntington Disease-Like 3
Abnormal head movements, Dystonia ORPHA:157946
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms ORPHA:79155
Greenberg Dysplasia
Abnormal lung lobation, Pulmonary hypoplasia OMIM:215140
Alg9-Cdg
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:79328
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Sensorineural hearing impairment, Hydrocephalus, Dandy-Walker malformation OMIM:612938
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Synophrys, Abnormal repetitive mannerisms OMIM:618067
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Carney Complex
Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma... ORPHA:1359
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Dysphagia, Abnormal repetitive mannerisms ORPHA:79264
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hydroceph... OMIM:220210
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Aqueductal stenosis, Cryptorchidism, Synophrys, Sensorin... OMIM:619512
Alexander Disease Type I
Hydrocephalus, Dysphagia ORPHA:363717
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Spina bifida occulta, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysmal respo... ORPHA:168491
Trisomy 17P
Hypoplasia of penis, Hydrocephalus, Low posterior hairline, Low-set ears, High anterior hairline,... ORPHA:261290
Triploidy
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalu... ORPHA:3376
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs ORPHA:1834
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity ORPHA:496790
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia ORPHA:572013
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Al-Gazali Syndrome
Failure to thrive, Corneal opacity, Sclerocornea OMIM:609465
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Aganglionic megacolon, Ventriculomegaly OMIM:304100
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bruxism, Re... OMIM:300912
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Ventriculomegaly, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Fine ... ORPHA:1812
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Hirsutism, Stere... OMIM:212066
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Infantile Sialic Acid Storage Disease
Hydrocephalus, Fair hair OMIM:269920
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Meacham Syndrome
Aplasia/Hypoplasia of the lungs, Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmo... ORPHA:3097
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... OMIM:609136
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Oral-phary... ORPHA:208447
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Decreased testicular ... OMIM:619321
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
B4Galt1-Cdg
Inflammatory abnormality of the skin, Hydrocephalus, Low-set ears, Hypothyroidism, Dandy-Walker m... ORPHA:79332
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy ORPHA:363618
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Overfriendliness OMIM:616579
Snijders Blok-Campeau Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Low-set ears OMIM:618205
Mucopolysaccharidosis Type 3
Synophrys, Coarse hair, Otitis media, Aspiration pneumonia, Thickened helices, Chronic otitis med... ORPHA:581
2Q37 Microdeletion Syndrome
Sparse scalp hair, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Compulsiv... ORPHA:1001
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome... ORPHA:251066
Hydrolethalus
Low-set, posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Anencephaly, Low-set ears, Abno... ORPHA:2189
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Whipple Disease
Myositis, Pericarditis, Anorexia, Myocarditis, Hydrocephalus, Uveitis, Arthritis, Erectile dysfun... ORPHA:3452
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Ambiguous genitalia, Communicating hydrocephalus ORPHA:1237
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Hydroc... ORPHA:381
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:610042
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocep... OMIM:615219
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Atopic dermatitis ORPHA:3240
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:2753
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Increased CSF protein concentration, Erectile dys... ORPHA:206448
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit... OMIM:300986
Sialidosis Type 1
Cataract, Corneal opacity ORPHA:812
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Hydrocep... ORPHA:401973
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Labial hypoplasia, ... OMIM:620073
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... OMIM:619695
Dubowitz Syndrome
Inguinal hernia, Wide nasal bridge, Hypocholesterolemia OMIM:223370
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Irregular menstruation, Uterine leiomyoma, Neonatal death, Recurrent otitis media,... OMIM:616482
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Precocious puberty, Crypto... OMIM:615485
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Crouzon Syndrome
Keratitis, Hydrocephalus, Optic atrophy, Conjunctivitis, Atresia of the external auditory canal, ... OMIM:123500
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Ocular Cystinosis
Corneal crystals ORPHA:411641
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Distal Deletion 15Q
Pulmonary hypoplasia ORPHA:1596
Zellweger Syndrome
Failure to thrive, Cataract, Corneal opacity, Brushfield spots, Posterior embryotoxon ORPHA:912
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, P... OMIM:615802
Oculoectodermal Syndrome
Limbal dermoid, Epicanthus, Eyelid coloboma OMIM:600268
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity OMIM:619471
Phelan-Mcdermid Syndrome
Ventriculomegaly, Aggressive behavior, Tongue thrusting, Protruding ear, Long eyelashes, Bruxism,... OMIM:606232
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Posteriorly rotated ears, Absent eyelashes, Hydroc... OMIM:115150
White-Sutton Syndrome
Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavior, Abnormal re... OMIM:616364
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Facial palsy OMIM:613155
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Hydrocephalus, ... OMIM:130720
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Aggressive behavior, Facial diplegia, Attention deficit hyperactivity diso... OMIM:619121
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Cockayne Syndrome A
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Den Hoed-De Boer-Voisin Syndrome
Thick eyebrow, Ventriculomegaly, Posteriorly rotated ears, EEG with focal spike waves, Widow's pe... OMIM:619229
Chromosome 6Pter-P24 Deletion Syndrome
Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus, Frontal upsweep of hai... OMIM:612582
Fryns Syndrome
Chylothorax, Pulmonary hypoplasia OMIM:229850
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia ORPHA:536471
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Trisomy 1Q
Small scrotum, Cryptorchidism, Hydrocephalus, Low-set ears, Ambiguous genitalia, Abnormality of t... ORPHA:261344
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Uveitis, Conjunctivitis, Male... ORPHA:90321
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Facial palsy, Hydrocephalus, Optic atrophy, Facial paralysis, Hearing impairment OMIM:259700
Congenital Sialidosis Type 2
Hydrocephalus, Optic atrophy, Low-set ears, Generalized hypertrichosis, Hearing impairment ORPHA:93400
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Hydrocephalus, Low-set ears, Gonadal dys... ORPHA:2075
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Decreased nerve condu... ORPHA:101085
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... ORPHA:275761
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Macroorchidism OMIM:619950
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Hearing abnormality, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Hydroceph... ORPHA:1555
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia ORPHA:731
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, EEG with focal spikes, Attention deficit hyperactivity... ORPHA:98784
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Communicating hydrocephalus ORPHA:1861
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Attention deficit hyperactivity disorder, Conductive hearing im... ORPHA:261197
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Cupped ear, Self-injurious behavior, Frontal upsweep of hai... OMIM:610954
Dpagt1-Cdg
Pulmonary hypoplasia ORPHA:86309
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Wagro Syndrome
Aniridia, Cataract, Corneal opacity, Obesity OMIM:612469
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Lcat Deficiency
Corneal opacity ORPHA:650
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, White hair, Hearing impairment ORPHA:2720
Aspartylglucosaminuria
Hepatomegaly, Cataract, Vacuolated lymphocytes, Neutropenia, Macroorchidism OMIM:208400
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Coccidioidomycosis
Morbilliform rash, Abnormality of the male genitalia, Abnormality of the female genitalia, Abnorm... ORPHA:228123
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:818
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Hydrocephalus, Facial palsy, Dandy-Walker malformation OMIM:310400
Lowry-Maclean Syndrome
Hypospadias, Bilateral cryptorchidism, Hydrocephalus, Low-set ears, Generalized hypertrichosis ORPHA:2409
Bardet-Biedl Syndrome 1
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, ... OMIM:209900
Aicardi-Goutières Syndrome
Eyelid coloboma, Low-set ears, Ptosis ORPHA:51
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po... ORPHA:280921
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, O... ORPHA:899
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Fetal Akinesia Deformation Sequence 1
Pulmonary hypoplasia OMIM:208150
Methylcobalamin Deficiency Type Cble
Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:2169
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Brittle hair, Slow-growing hair, Thickened helices, Abnormal e... ORPHA:1340
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Cataract, Premature ovarian insufficiency, Female h... OMIM:240300
Gorlin Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:377
Dubowitz Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Hypoparathyroidism, Hypospadias, Eczema, He... ORPHA:235
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Astigmatism, Small for gestational age, Corneal opacity OMIM:301056
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Synophrys, Hydrocephalus, Colpocephaly, Low-set ears, Ventriculomegaly OMIM:620156
Roberts-Sc Phocomelia Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Hydrocephalus, Frontal encep... OMIM:268300
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... OMIM:309000
Opitz-Kaveggia Syndrome
Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Hydrocephalus, Fine hair, Frontal ... OMIM:305450
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Opacification of the corneal stroma OMIM:215250
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Hydrocephalus, Micropenis, Hypogonadism, Low-set ears, Overfolded... OMIM:300514
Cardiac-Urogenital Syndrome
Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia OMIM:618280
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Posteriorly rotated ears, Aganglionic megacolon, Highly arched eyebrow, Sensorineural hearing imp... OMIM:239300
Cystinosis
Failure to thrive, Corneal opacity ORPHA:213
Houge-Janssens Syndrome 3
Self-injurious behavior, Ventriculomegaly, Abnormal repetitive mannerisms, Attention deficit hype... OMIM:618354
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Aase-Smith Syndrome I
Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation OMIM:147800
Joubert Syndrome 14
Encephalocele, Posteriorly rotated ears, Highly arched eyebrow, Hydrocephalus, Meningocele, Optic... OMIM:614424
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly, Hearing impairment OMIM:272200
Tenorio Syndrome
Thick eyebrow, Hydrocephalus, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous... OMIM:616260
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Hogue-Janssen Syndrome 2
Abnormal hair whorl, Hydrocephalus, Ventriculomegaly OMIM:616362
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulating hormone concentration, Ir... OMIM:101800
Cerebral Visual Impairment
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Increased cup-to-disc ra... ORPHA:447788
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Craniofacial Microsomia 1
Occipital encephalocele, Blepharophimosis, Underdeveloped tragus, Conductive hearing impairment, ... OMIM:164210
Mucopolysaccharidosis, Type Ii
Papilledema, Hydrocephalus, Recurrent pneumonia, Hypertrichosis, Recurrent otitis media, Hearing ... OMIM:309900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... ORPHA:400
Hemangioblastoma
Vertigo, Hydrocephalus ORPHA:252054
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida ORPHA:1327
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Peho Syndrome
External ear malformation, Hydrocephalus, Optic atrophy, Hypsarrhythmia, EEG abnormality, Macroti... ORPHA:2836
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pulmonary hypoplasia ORPHA:83617
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Sensorineural hearing impairment, Lateral ventricle dilatation, Normal pr... ORPHA:300570
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Sensorineural hearing impairment, Hydrocephalus OMIM:615249
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs ORPHA:887
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Mandibular osteomyelitis, Hydrocephalus, Cranial nerve compression, Optic atrophy,... OMIM:259710
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Repetitive compulsive behavior, Optic atrophy, Per... ORPHA:66634
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Exaggerated startle response, Joint contracture OMIM:616881
Cockayne Syndrome B
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Abnormal hair morpholog... OMIM:133540
Immunodeficiency 47
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration OMIM:300972
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Rabin-Pappas Syndrome
Optic nerve hypoplasia, Highly arched eyebrow, Sensorineural hearing impairment, Hydrocephalus, C... OMIM:620155
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Cousin Syndrome
Posteriorly rotated ears, Hydrocephalus, Ambiguous genitalia, female, Low anterior hairline, Ambi... OMIM:260660
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, A... OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Aymé-Gripp Syndrome
Sparse scalp hair, Pericarditis, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing ... ORPHA:1272
Ogden Syndrome
Pulmonary artery stenosis, Pulmonary hypoplasia, Peripheral pulmonary artery stenosis, Pulmonary ... OMIM:300855
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Cryptorchidism, EEG abnormality, Extra-axial cerebrospinal fluid accumulat... OMIM:619005
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Synophrys, Protruding ear, Tics, Otitis media, Compulsive behaviors, Micropenis, A... OMIM:619475
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Rett Syndrome, Congenital Variant
Tongue thrusting, Abnormal repetitive mannerisms, Bruxism, Protruding ear OMIM:613454
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Juvenile Sialidosis Type 2
Cataract, Corneal opacity ORPHA:93399
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Low-set ears ORPHA:2180
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti... ORPHA:468678
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Obesity, Aniridia, Iris coloboma ORPHA:251038
Meckel Syndrome, Type 1
Pulmonary hypoplasia OMIM:249000
Aspartylglucosaminuria
Splenomegaly, Hepatomegaly, Macroorchidism ORPHA:93
Pelvis-Shoulder Dysplasia
Hydranencephaly, Abnormal pinna morphology, Spina bifida, Hydrocephalus, Microtia, Facial hirsuti... ORPHA:2839
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms ORPHA:927
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Mucopolysaccharidosis Type 1
Sinusitis, Sensorineural hearing impairment, Hydrocephalus, Low anterior hairline, Optic atrophy,... ORPHA:579
Monosomy 18Q
Bilateral cryptorchidism, Sensorineural hearing impairment, Hydrocephalus, Low anterior hairline,... ORPHA:1600
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Protruding ear, Pineal cyst, Interictal ep... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Protruding ear, Pineal cyst, Interictal ep... ORPHA:363958
Fontaine Progeroid Syndrome
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia OMIM:612289
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Optic a... ORPHA:370959
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Ulbright-Hodes Syndrome
Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Adrenal hypoplasia, Hydrocephalus, Optic atro... ORPHA:7
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Attention deficit hyper... OMIM:300352
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Sensorineural hearing impairment, Abnormality of the outer ear, A... ORPHA:435638
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Aggressive behavior, Lateral ventricle dilatation, Low-set ears, Abnormal t... ORPHA:457279
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Micropeni... OMIM:617822
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:270400
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Bicor... OMIM:264480
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Tetrasomy 15Q26
Dandy-Walker malformation, Hydrocephalus, Cupped ear, Low-set ears OMIM:614846
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Joubert Syndrome With Oculorenal Defect
Low-set, posteriorly rotated ears, Encephalocele, Aganglionic megacolon, Highly arched eyebrow, H... ORPHA:2318
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, A... ORPHA:59315
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Abnormal repetitive mannerisms, Compulsive be... OMIM:615656
Amelocerebrohypohidrotic Syndrome
EEG abnormality, Hydrocephalus ORPHA:1946
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Sensorineural hearing impairment, Hydrocephalus, Attention deficit hyperactivity ... ORPHA:250989
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Optic atrophy, Long eyelashes, Inappropriate laughter, Dandy-Walker malformation, ... OMIM:618476
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Mucopolysaccharidosis, Type Vii
Sensorineural hearing impairment, Hydrocephalus, Hirsutism, Coarse hair, Recurrent otitis media, ... OMIM:253220
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Sparse eyelashes, Hydrocephalus, Cupped ear, Low posterior hairlin... OMIM:612863
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Sens... ORPHA:2322
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Fucosidosis
Failure to thrive, Corneal opacity ORPHA:349
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
Joubert Syndrome With Renal Defect
Low-set, posteriorly rotated ears, Encephalocele, Aganglionic megacolon, Highly arched eyebrow, H... ORPHA:220497
Restrictive Dermopathy 1
Pulmonary hypoplasia OMIM:275210
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Aggressive behavior, Decreased nerve cond... ORPHA:909
Achondroplasia
Functional abnormality of the middle ear, Hydrocephalus, Hearing impairment ORPHA:15
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Low-set ears, Abnorma... ORPHA:475
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Sparse eyelashes, Posteriorly rotated ears, Optic nerve hypoplas... OMIM:605627
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Developmental cataract OMIM:616603
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t... ORPHA:79259
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia OMIM:243440
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Wilson Disease
Kayser-Fleischer ring, Failure to thrive, Increased body weight, Weight loss ORPHA:905
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Gm1 Gangliosidosis
Failure to thrive, Corneal opacity, Weight loss ORPHA:354
Alexander Disease
Diabetes mellitus, Facial palsy, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Self-inj... ORPHA:58
Scheie Syndrome
Corneal opacity ORPHA:93474
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Low-set ears OMIM:300863
Nephronophthisis 18
Tubulointerstitial nephritis, Hydrocephalus OMIM:615862
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Abnormality of the endocrine syste... ORPHA:2356
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Brain atrophy, Abnormal rep... ORPHA:447997
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Eczema... ORPHA:468631
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Papilledema, Hydrocephalus OMIM:260500
Meckel Syndrome
Accessory spleen, Cataract, Pancreatic fibrosis, Abnormal chorioretinal morphology, Sclerocornea,... ORPHA:564
Apert Syndrome
Sensorineural hearing impairment, Hydrocephalus, Abnormal semicircular canal morphology, Optic at... ORPHA:87
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Farber Disease
Abnormal conjunctiva morphology, Failure to thrive, Corneal opacity, Opacification of the corneal... ORPHA:333
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Sex reversal, Micr... OMIM:612651
Restrictive Dermopathy
Pulmonary hypoplasia ORPHA:1662
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Corneal opacity ORPHA:1830
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida ORPHA:1393
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Diffuse cerebellar atrophy ORPHA:247815
Dural Sinus Malformation
Papilledema, Pulsatile tinnitus, Myelopathy, Ear pain, Hydrocephalus ORPHA:97339
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Bile duct proliferation, Abnormal rep... OMIM:610688
Marshall-Smith Syndrome
Ventriculomegaly, Brittle hair, Optic nerve hypoplasia, Highly arched eyebrow, Hearing impairment... OMIM:602535
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Elevated circulating creatine kinase concentra... OMIM:253800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Microtia... OMIM:301040
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Optic atrophy, Ventriculomegaly, Inflammation of the large intestine OMIM:614576
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias OMIM:312190
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Hydrocephalus, Sensorineural hearing impai... OMIM:616007
Neurooculorenal Syndrome
Ectopic posterior pituitary, Mixed hearing impairment, Decreased circulating cortisol level, High... OMIM:620305
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ventriculomegaly, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Hydroceph... OMIM:257300
Chromosome 17P13.1 Deletion Syndrome
Posteriorly rotated ears, Highly arched eyebrow, Spina bifida, Synophrys, Hydrocephalus, Low ante... OMIM:613776
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Low-set ears, Hypertrichosis OMIM:618590
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus, Hydrocele testis, Microtia, Low-set ears, Ventriculomegaly OMIM:613603
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Encephalocele, Aganglionic megacolon, Highly arched eyebrow, H... ORPHA:220493
Familial Dysautonomia
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity ORPHA:1764
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Annular pancreas, Attention defici... OMIM:227646
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... ORPHA:534
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Exaggerated startle response, Joint contracture OMIM:617864
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Pulmonary artery stenosis, Supracardiac total anomalous pulmona... ORPHA:99125
Hurler Syndrome
Hydrocephalus, Rhinitis, Abnormal nerve conduction velocity, Generalized hirsutism, Thick eyebrow... ORPHA:93473
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Colpocephaly, Chordee, Micropeni... OMIM:309801
Alagille Syndrome 1
Long nose, Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia OMIM:118450
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta ORPHA:2311
Coach Syndrome 2
Hydrocephalus OMIM:619111
Tay-Sachs Disease
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Dystonia, Laryngeal dy... ORPHA:845
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pericarditis ORPHA:163596
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Abnormal location of the eyebrow, Repetitive compulsive behavior, Widow's peak, EEG with focal sh... ORPHA:522077
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Wide nasal bridge, Dystonia ORPHA:438216
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary artery stenosis, Pulmonary hypoplasia ORPHA:96334
Osteogenesis Imperfecta
Pulmonary hypoplasia ORPHA:666
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity ORPHA:2323
Tetrasomy 9P
Pulmonary hypoplasia ORPHA:3310
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive mannerisms, Cerebral ... ORPHA:496641
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Cryptorchidism, Meningoencepha... OMIM:236670
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Limb joint contracture OMIM:620327
Mucopolysaccharidosis, Type Ivb
Corneal opacity, Opacification of the corneal stroma OMIM:253010
Hurler-Scheie Syndrome
Corneal opacity OMIM:607015
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Contractures of the large joints, Dystonia, Short nose, Failure to ... ORPHA:521426
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Low-set ears ORPHA:163966
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Hydrocephalus, Optic atrophy, Hearing impairment ORPHA:220295
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Cholelithiasis, Hydrocephalus, Abnormality of the hairline OMIM:614886
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, Precocious puberty... OMIM:301066
Adams-Oliver Syndrome
Encephalocele, Alopecia, Hydrocephalus, EEG abnormality, Sparse hair ORPHA:974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation ORPHA:2719
Sturge-Weber Syndrome
Hearing abnormality, Hydrocephalus, Optic atrophy, Attention deficit hyperactivity disorder, Dysp... ORPHA:3205
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar... OMIM:617301
Hajdu-Cheney Syndrome
Hypospadias, Short nail, Cryptorchidism, Synophrys, Hydrocephalus, Hirsutism, Large earlobe, Long... OMIM:102500
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Cupped ear, Optic atrophy, ... OMIM:309590
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Hurler Syndrome
Recurrent otitis media, Hydrocephalus, Hirsutism, Hearing impairment OMIM:607014
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Hypospadias, Anterior pituitary hypoplasia, Eczema, Cryptorchid... ORPHA:464306
Wiedemann-Steiner Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Synoph... ORPHA:319182
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypop... ORPHA:2166
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sensorineural hearing impairment, Brittle hair OMIM:616084
Plasminogen Deficiency, Type I
Hydrocephalus, Conjunctivitis, Periodontitis, Dandy-Walker malformation, Nephritis, Ventriculomegaly OMIM:217090
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia ORPHA:93271
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... OMIM:269200
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... ORPHA:177907
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Chromosome 1P36 Deletion Syndrome, Distal
Synophrys, Thickened helices, Conductive hearing impairment, Hypothyroidism, Self-mutilation, Opp... OMIM:607872
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema ORPHA:289
Neonatal Lupus Erythematosus
Skin rash, Hydrocephalus, Malar rash, Maculopapular exanthema ORPHA:398124
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal pinna morphology, Hydrocephalus, Hypoplastic labia majora, Stenosis of the external audi... OMIM:207410
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Hyperactivity, Papilledema, Impulsivity, Aggressive be... ORPHA:580
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia OMIM:615574
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity OMIM:163200
Shprintzen-Goldberg Craniosynostosis Syndrome
Abnormal pinna morphology, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Low-set ears,... OMIM:182212
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Bile duct proliferation, Dandy-Walker malformation OMIM:607361
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Apert Syndrome
Acne, Cryptorchidism, Hydrocephalus, Chronic otitis media, Vaginal atresia, Ventriculomegaly, Hea... OMIM:101200
Desmosterolosis
Low-set, posteriorly rotated ears, Hydrocephalus, Abnormal earlobe morphology, Large earlobe, Low... ORPHA:35107
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Short nose OMIM:617527
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Posteriorly rotated ears, Hypospadias, Hydrocephalus, Optic atrophy, Hypoplastic l... OMIM:123790
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Coffin-Siris Syndrome 12
Synophrys, Low anterior hairline, Protruding ear, Hypothyroidism, Abnormal repetitive mannerisms,... OMIM:619325
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Basal Cell Nevus Syndrome 2
Vertigo, Hydrocephalus OMIM:620343
Medulloblastoma
Hydrocephalus, Vertigo, Bilateral sensorineural hearing impairment, Abnormal cranial nerve morpho... ORPHA:616
1P36 Deletion Syndrome
Hypoplasia of penis, Conductive hearing impairment, Hypothyroidism, Abnormal repetitive mannerism... ORPHA:1606
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Developmental cataract, Anemia, Vitreous hemorrhage, Thr... OMIM:620185
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Dandy-Walker malformation, Highly arched e... ORPHA:2162
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Fanconi Anemia
Hypospadias, Aganglionic megacolon, Spina bifida, Abnormal preputium morphology, External ear mal... ORPHA:84
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the ... ORPHA:722
Mucopolysaccharidosis Type 7
Corneal opacity ORPHA:584
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Protruding ear OMIM:612940
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Optic atrophy, Ventriculomegaly ORPHA:60040
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Trisomy 8P
Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Annular pancreas, Aplasia/Hypoplasia of ... ORPHA:264450
Focal Dermal Hypoplasia
Aplasia/Hypoplasia of the lungs, Abnormality of the pulmonary vasculature ORPHA:2092
Isotretinoin-Like Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external aud... ORPHA:2306
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma OMIM:256540
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Desmosterolosis
Posteriorly rotated ears, Hydrocephalus, Ambiguous genitalia, female, Cupped ear, Ambiguous genit... OMIM:602398
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Optic disc coloboma, Low-set ears... OMIM:608091
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Septo-optic dysplasia, Anterior pituitary hypoplasia, Uplifted earlo... OMIM:619841
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep... ORPHA:476126
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Failure to thrive, Corneal opacity OMIM:601812
Monosomy 9Q22.3
Hyperactivity, Ovarian fibroma, Hydrocephalus, Low-set ears, Thickened ears, Ventriculomegaly ORPHA:77301
Mend Syndrome
Hyperactivity, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Low-set ears, Overfolded ... OMIM:300960
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Bilateral cryptorchidism, Synophrys, Hydrocephalus, Hyp... ORPHA:3042
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of the endocrine system, Hearing abnormality, Cryptorchidism,... ORPHA:636
1Q44 Microdeletion Syndrome
Synophrys, Hydrocephalus, Ventriculomegaly ORPHA:238769
Full Nf2-Related Schwannomatosis
Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Sensorineural hearing impairment, Hydr... ORPHA:637
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Conductive hearing impairment, Chronic otiti... ORPHA:567
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Primrose Syndrome
Bilateral cryptorchidism, Synophrys, Tics, Abnormal repetitive mannerisms, Hypothyroidism, Dystro... OMIM:259050
Orofaciodigital Syndrome I
Alopecia, Dry hair, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Low-set ears... OMIM:311200
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Chronic sinusitis, Noncommunicating hydrocephalus, Chronic rhinitis OMIM:618699
Kinsship Syndrome
Ventriculomegaly, Synophrys, Low-set ears, Bruxism, Abnormal repetitive mannerisms, Dandy-Walker ... OMIM:619297
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Optic disc coloboma, Protruding ear, Low posterior hairline, Abnor... ORPHA:261337
De Barsy Syndrome
Failure to thrive, Corneal opacity, Cataract ORPHA:2962
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Abnormal hair whorl, Hydrocephalus, Aplasia of the vagina,... ORPHA:457284
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism... OMIM:194190
Pseudo-Torch Syndrome 1
Failure to thrive, Opacification of the corneal stroma, Cataract OMIM:251290
Kabuki Syndrome 1
Posteriorly rotated ears, Highly arched eyebrow, Premature thelarche, Sparse eyebrow, Cryptorchid... OMIM:147920
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Cerebral atrophy, Protruding ear, Microtia, Attention deficit hy... OMIM:301030
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Osteootohepatoenteric Syndrome
Hydrocephalus, Hearing impairment OMIM:619377
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Atresia of the external auditory canal, Low-set ears ORPHA:93259
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Highly arched eyebrow, Hydrocephalus, Optic disc coloboma, Low-set ears,... ORPHA:1454
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Micropenis, Low-set ears, Overfolded... OMIM:618653
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Hypospadias, Cryptorchidism, Protruding ear, Posterior pituitary hypoplasia, A... ORPHA:464311
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals OMIM:210370
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Failure to thrive, Opacification of the corneal stroma, Cataract OMIM:214110
15Q Overgrowth Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Hydrocepha... ORPHA:314585
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Vertigo, Subependymal nodules, Dysphagia, Ventriculomegaly ORPHA:25
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Cryptococcosis
Osteomyelitis, Pneumonia, Hydrocephalus, Peritonitis, Abnormality of the outer ear, Prostatitis, ... ORPHA:1546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Dilated th... OMIM:613154
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Highly arched eyebrow, Cryptorchidism, Hydr... ORPHA:221120
Large Congenital Melanocytic Nevus
Hydrocephalus, Generalized hirsutism ORPHA:626
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Posteriorly rotated ears, Cryptorchidism, Protruding ear, Low-set ea... ORPHA:2462
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Hypotonia, Ataxia, And Delayed Development Syndrome
Posteriorly rotated ears, Cryptorchidism, Synophrys, Overfolded helix, Micropenis, Horizontal eye... OMIM:617330
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Dyggve-Melchior-Clausen Disease
Failure to thrive, Corneal opacity ORPHA:239
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Congenital Myopathy 22A, Classic
Neonatal death, Synophrys, Normal pressure hydrocephalus OMIM:620351
Fanconi Anemia, Complementation Group L
Hydrocephalus, Anotia, Microtia, Attention deficit hyperactivity disorder, Low-set ears, Aplasia ... OMIM:614083
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Facial palsy, Spina bifida, Optic nerve hypoplasia, Hypertrichosis, Abnormal optic d... ORPHA:508498
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Absent nipple, Low-set ears OMIM:104350
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Hirsutism OMIM:224400
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Tangier Disease
Opacification of the corneal stroma OMIM:205400
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Hajdu-Cheney Syndrome
Hypospadias, Synophrys, Hydrocephalus, Low anterior hairline, Coarse hair, Periodontitis, Low-set... ORPHA:955
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Optic nerve... OMIM:610829
Mucopolysaccharidosis, Type Vi
Pneumonia, Hydrocephalus, Cervical myelopathy, Hirsutism, Hearing impairment OMIM:253200
Mosaic Trisomy 9
Corneal opacity ORPHA:99776
Developmental And Epileptic Encephalopathy 2
EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:300672
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Corneal opacity ORPHA:364577
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Multifocal epileptiform discharges, EEG with generalized ... ORPHA:369837
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Sensorineural hearing impairment, Hydrocephalus, Azoospermia, Abnormal temper tantru... ORPHA:2072
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Hypospadias, Abnormal eyelash morphology, Epispadias, Male pseudoherma... ORPHA:2556
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Incontinentia Pigmenti
Keratitis, Cataract, Corneal opacity ORPHA:464
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hyper... ORPHA:217253
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced be... ORPHA:353281
Histiocytoid Cardiomyopathy
Megalocornea, Failure to thrive, Corneal opacity, Congenital aphakia ORPHA:137675
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Hydrocephalus, Otitis media, Chronic rhinitis, Optic nerve compressi... ORPHA:667
Mohr Syndrome
Conductive hearing impairment, Hydrocephalus OMIM:252100
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia ORPHA:79255
Osteopetrosis, Autosomal Recessive 5
Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Stillbirth, Ventriculomegaly OMIM:259720
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Low posterior hairline, Microtia, Low-set ears, Prominent antitragus, Thick eyebrow OMIM:245600
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Sclerocornea OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Optic nerv... OMIM:615287
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism OMIM:252600
Tbck-Related Intellectual Disability Syndrome
Corneal opacity ORPHA:488632
3Mc Syndrome 3
Corneal opacity OMIM:248340
Alpha-Mannosidosis, Infantile Form
Astigmatism, Corneal opacity, Cataract ORPHA:309282
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Pineal cyst, Stereotypical b... ORPHA:513456
Carpenter Syndrome 1
Microcornea, Obesity, Opacification of the corneal stroma OMIM:201000
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Mucopolysaccharidosis Type 6
Failure to thrive, Opacification of the corneal stroma ORPHA:583
Arboleda-Tham Syndrome
Posteriorly rotated ears, Highly arched eyebrow, Anteverted ears, Abnormal repetitive mannerisms,... OMIM:616268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Highly arched eyebrow, Synophrys, Low anterior hairline, Hypsarrhythmia... OMIM:301044
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Facial palsy, Epispadias, Cr... ORPHA:2658
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Abnormal lateral ventricle morphology, Hypospadias, Pneumonia, Trichiasis, Highly ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Abnormal lateral ventricle morphology, Hypospadias, Pneumonia, Trichiasis, Highly ... ORPHA:353277
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Hydrocephalus, Microti... ORPHA:163979
Schimke Immunoosseous Dysplasia
Astigmatism, Small for gestational age, Opacification of the corneal stroma OMIM:242900
Holoprosencephaly 7
Alobar holoprosencephaly, Synophrys, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, O... OMIM:610828
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Osteopathia Striata With Cranial Sclerosis
Posteriorly rotated ears, Facial palsy, Hydrocephalus, Microtia, Low-set ears, Conductive hearing... OMIM:300373
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Corneal opacity, Decreased body weight OMIM:615273
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Corneal opacity ORPHA:79396
Developmental And Epileptic Encephalopathy 100
Synophrys, EEG with photoparoxysmal response, Dysphagia, Abnormal repetitive mannerisms, Ventricu... OMIM:619777
Gaucher Disease
Osteomyelitis, Hydrocephalus, Osteoarthritis, Hepatitis, Dysphagia, Delayed puberty, Ventriculome... ORPHA:355
Icf Syndrome
Communicating hydrocephalus, Low-set ears ORPHA:2268
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals OMIM:219900
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Dextrocardia
Abnormal reproductive system morphology, Hydrocephalus, Pancreatic hypoplasia, Aplasia/Hypoplasia... ORPHA:1666
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis OMIM:158310
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Small earlobe, Dandy-Walker malformation, Absent eyebrow, Alopecia, Hyp... OMIM:264090
Marden-Walker Syndrome
Abnormal penis morphology, Posteriorly rotated ears, Hypospadias, Epispadias, Hydrocephalus, Atte... ORPHA:2461
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis OMIM:615947
Sandhoff Disease
Exaggerated startle response OMIM:268800
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Keratoconjunctivitis sicca OMIM:616914
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Hydrocephalus ORPHA:31
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Allergic rhinitis, Eczema, Hydrocephalus, Annular p... OMIM:618162
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pancreatic endoc... ORPHA:805
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Moebius Syndrome
Corneal opacity ORPHA:570
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thick hair, Hydrocephalus, Optic atrophy, Long eyelashes, Conjunctivitis, Hypertrichosis ORPHA:505248
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:280
Gracile Bone Dysplasia
Micropenis, Hydrocephalus OMIM:602361
Fabry Disease
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy ORPHA:324
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Hyperparathyroidism, Ovarian cyst, Low-set ears, Ventriculomegaly OMIM:618188
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... OMIM:300166
Thakker-Donnai Syndrome
Communicating hydrocephalus, Macrotia, Posteriorly rotated ears, Rectovaginal fistula ORPHA:1780
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Campomelic Dysplasia
Hypospadias, Short nail, Spina bifida, Hydrocephalus, Spinal dysraphism, Sex reversal, Low-set ea... OMIM:114290
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Ele... OMIM:619534
Lathosterolosis
Microcornea, Failure to thrive, Opacification of the corneal stroma, Cataract ORPHA:46059
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hydrocephalus, Fine hair, La... OMIM:210710
Focal Dermal Hypoplasia
Mixed hearing impairment, Brittle hair, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Myel... OMIM:305600
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Dysphagia OMIM:607625
Mosaic Variegated Aneuploidy Syndrome
Cataract, Corneal opacity ORPHA:1052
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Small scrotum, Posteriorly rotated ears, Optic nerve hypoplasia, Eczema, Aggressive ... OMIM:620330
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Trisomy 18
Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Cryptorchidism, Hydrocephalus, Op... ORPHA:1106
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Optic atrophy, Ventriculomegaly ORPHA:395
Yunis-Varon Syndrome
Sparse scalp hair, Abnormal pinna morphology, Sparse eyelashes, Hypospadias, Sparse eyebrow, Cryp... ORPHA:3472
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Protruding ear, Hippocam... OMIM:614756
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Macrotia, Low-set ears OMIM:277400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid ute... OMIM:107480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Nail-Patella Syndrome
Spina bifida OMIM:161200
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Mye... OMIM:258040
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy ORPHA:495875
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Optic atrophy, Lateral ventricle dilatation, Optic nerve comp... OMIM:612301
Encephalocraniocutaneous Lipomatosis
Corneal opacity, Iris coloboma ORPHA:2396
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Recurrent pneumonia, Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:508533
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Abnormality of the ... ORPHA:3455
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectovaginal fistula, Perineal fistula ORPHA:3016
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity OMIM:274000
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Posteriorly rotated ears, Sparse eyebrow, Low-set ears, Macrotia, Ve... OMIM:617011
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Small for gestational age, Opacification of the corneal stroma OMIM:251300
Fibular Hemimelia
Spina bifida ORPHA:93323
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Tubulointerstitial nephritis, Hydrocephalus, Ventriculomegaly ORPHA:228308
Lhermitte-Duclos Disease
Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Hydrocephalus, Optic atrophy, Low-set ears ORPHA:79282
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Larsen Syndrome
Corneal opacity OMIM:150250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cataract, Small for gestational age, Brushfield spots, Opacification of the corneal stroma, Failu... OMIM:614866
Peters-Plus Syndrome
Hypoplasia of the vagina, Ventriculomegaly, Posteriorly rotated ears, Bilobate gallbladder, Hypos... OMIM:261540
Otopalatodigital Syndrome, Type Ii
Posteriorly rotated ears, Hypospadias, Spina bifida, Cryptorchidism, Widow's peak, Hydrocephalus,... OMIM:304120
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Hydrocephalus ORPHA:157
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility ORPHA:881
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Cryptorchidism, Precocious puberty, Abnormal repetitive mannerisms OMIM:616682
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis, Failure to thrive ORPHA:2273
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Chime Syndrome
Corneal opacity ORPHA:3474
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Neurocardiofaciodigital Syndrome
Failure to thrive, Small for gestational age, Sclerocornea, Cataract OMIM:619869
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Failure to thrive, Corneal opacity OMIM:608670
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, ... ORPHA:709
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Macrotia ORPHA:168577
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Communicating hydrocephalus, Ventriculomegaly, Sparse eyebrow,... ORPHA:457359
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Exstrophy-Epispadias Complex
Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra... ORPHA:322
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Hydrocele testis, Microtia, Chordee, Low-s... OMIM:619522
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypsarrhythmia, Pheochromocytoma, Parathyroid a... OMIM:162200
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Pallister-Killian Syndrome
Pulmonary hypoplasia OMIM:601803
Costello Syndrome
Curly hair, Posteriorly rotated ears, Hydrocephalus, Vestibular schwannoma, Low-set ears, Sparse ... OMIM:218040
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal balding, Highly arched eyebrow, Synophrys, Sensorineural hearing impairment, Protruding e... OMIM:612474
Williams Syndrome
Flat cornea, Failure to thrive in infancy, Cataract, Corneal opacity, Blue irides, Obesity, Aplas... ORPHA:904
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium,... ORPHA:910
Phocomelia, Schinzel Type
Meningocele ORPHA:2879
Kindler Epidermolysis Bullosa
Conjunctivitis, Corneal opacity ORPHA:2908
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Baller-Gerold Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Hydrocephalus, Optic ... OMIM:218600
Mowat-Wilson Syndrome
Bifid scrotum, Uplifted earlobe, Conductive hearing impairment, Webbed penis, Micropenis, Abnorma... ORPHA:2152
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity ORPHA:217085
Hydrolethalus Syndrome 1
Hypospadias, Abnormal pinna morphology, Bifid uterus, Anencephaly, Stillbirth, Low-set ears, Adre... OMIM:236680
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity ORPHA:217093
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Autosomal Dominant Cutis Laxa
Corneal opacity, Developmental cataract ORPHA:90348
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Wilson Disease
Kayser-Fleischer ring OMIM:277900
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Corneal ulceration, Corneal opacity, Weight loss ORPHA:740
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Mucolipidosis Ii Alpha/Beta
Megalocornea, Failure to thrive, Opacification of the corneal stroma OMIM:252500
Gaucher Disease, Type Iiic
Opacification of the corneal stroma OMIM:231005
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Short nail, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Hypertrichosis, Ant... OMIM:312870
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Low-set ears OMIM:306955
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Posteriorly rotated ears, Hypospadias, Uplifted earlobe, Septate vagina, Aganglion... ORPHA:261537
Glycogen Storage Disease Of Heart, Lethal Congenital
EEG with burst suppression, Hydrocephalus OMIM:261740
Aicardi Syndrome
Spina bifida OMIM:304050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Exaggerated startle response, Decreased serum iron, Dystonia ORPHA:438213
Lymphangioleiomyomatosis
Hydrocephalus, Abnormal morphology of female internal genitalia, Optic atrophy ORPHA:538
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Sinusitis, Attention deficit hyperactivity disorder, Protruding ear ORPHA:363700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Uplifted earlobe, Webbed penis, Micropenis, Abnormal repetitive mannerisms, Hyposp... ORPHA:261552
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis ORPHA:2907
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Holoprosencephaly 2
Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretina... OMIM:157170
Arima Syndrome
Occipital meningocele OMIM:243910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
EEG abnormality, Hydrocephalus, Optic atrophy, Ventriculomegaly OMIM:253280
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma ORPHA:79280
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Patent urachus OMIM:192350
Marfan Syndrome
Meningocele ORPHA:558
Digeorge Syndrome
Posterior embryotoxon, Obesity, Sclerocornea OMIM:188400
Loeys-Dietz Syndrome 1
Hydrocephalus, Eosinophilic infiltration of the esophagus OMIM:609192
Microphthalmia, Syndromic 6
Microcornea, Failure to thrive, Sclerocornea OMIM:607932
Loeys-Dietz Syndrome 2
Hydrocephalus, Eosinophilic infiltration of the esophagus OMIM:610168
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... OMIM:308205
Yunis-Varon Syndrome
Cataract, Small for gestational age, Failure to thrive in infancy, Sclerocornea, Severe failure t... OMIM:216340
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele OMIM:276820
Lymphatic Malformation 9
Tortuous lymphatic vessels OMIM:619319

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.

Phenotype Allele Zygosity Sex Life Stage
Epididymis - MPATH pathological process term necrosis Celsr1em1(IMPC)Mbp HET Early adult

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 Celsr1.

No publications found that use IMPC mice or data for Celsr1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Celsr1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Celsr1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Celsr1tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Celsr1em1(IMPC)Mbp Exon Deletion Mice

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