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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 skin morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00
decreased circulating cholesterol level Celsr1Scy HET Early adult 5.62×10-05
female infertility Celsr1em1(IMPC)Mbp HOM Early adult 0.00
increased circulating HDL cholesterol level Celsr1Scy HET Early adult 9.37×10-06
abnormal head morphology Celsr1Crsh HET Early adult 1.26×10-11
abnormal brain morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Celsr1em1(IMPC)Mbp HOM   Early adult 0.00
enlarged spleen Celsr1em1(IMPC)Mbp HET Early adult 0.00
increased lean body mass Celsr1Scy HET Early adult 2.67×10-08
decreased lean body mass Celsr1Crsh HET Early adult 7.16×10-09
male infertility Celsr1em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating amylase level Celsr1Scy HET Early adult 6.46×10-06
corneal opacity Celsr1Crsh HET   Early adult 2.56×10-05
abnormal vitreous body morphology Celsr1em1(IMPC)Mbp HET   Early adult 7.30×10-05
enlarged testis Celsr1em1(IMPC)Mbp HET Early adult 0.00
cataract Celsr1em1(IMPC)Mbp HET   Early adult 7.08×10-05
abnormal startle reflex Celsr1Scy HET Early adult 3.35×10-05
increased circulating cholesterol level Celsr1Scy HET Early adult 4.78×10-06
increased brain size Celsr1em1(IMPC)Mbp HET Early adult 0.00
abnormal snout morphology Celsr1Scy HET Early adult 6.48×10-10
increased total body fat amount Celsr1Scy HET Early adult 1.57×10-08
abnormal spleen 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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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MicroCT E18.5

Embryo reconstruction

8 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 Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Oocyte Maturation Defect 10
Female infertility OMIM:619176
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
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 17
Infertility OMIM:617214
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Myelopathy, Spastic paraparesis OMIM:159580
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Dermoids Of Cornea
Corneal opacity OMIM:304730
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Abnormality of the outer ear, Abnormal pinna morphology, Lower ey... OMIM:248400
Treacher Collins Syndrome 3
Conductive hearing impairment, Microtia, Downslanted palpebral fissures, Lower eyelid coloboma, A... OMIM:248390
Tuberculosis
Abnormal lung morphology ORPHA:3389
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Hydrocephalus, Periodontitis, EEG abnormality, Sparse bo... ORPHA:1008
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Orbital Margin, Hypoplasia Of
Congenital extraocular muscle anomaly, Lacrimal duct atresia, Lower eyelid coloboma OMIM:165600
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Sparse axillary hair... ORPHA:52901
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Distal Trisomy 14Q
Abnormal lung lobation ORPHA:1705
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... OMIM:246700
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Corneal opacity, Microcornea ORPHA:2432
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Cupped ear, Upper eyelid coloboma, Absent lacrimal punctum, Lipomas of eyelids, E... OMIM:167730
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Fasciculations, Decreased fertility OMIM:313200
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... OMIM:617862
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Morquio Syndrome C
Corneal opacity OMIM:252300
Premature Ovarian Failure 13
Amenorrhea, Oligomenorrhea, Female infertility OMIM:617442
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Ataxia OMIM:613909
Pineocytoma
Hearing abnormality, Hydrocephalus, Increased CSF protein, Episodic ataxia ORPHA:251912
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Conductive hearing impairment, Lower eyelid coloboma OMIM:618939
Citrullinemia, Type Ii, Neonatal-Onset
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... OMIM:605814
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Eyelid coloboma, Spina bifida, Blepharophimosis, Aplasia/Hypop... ORPHA:1104
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Hypertriglyceridemi... OMIM:612526
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... OMIM:619868
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Microtia, Upper eyelid coloboma, Anotia, Downslanted palpebral fissures, Lower eyelid... OMIM:616462
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Microtia, Upper eyelid coloboma, Limbal dermoid, Encephalocele ORPHA:398156
Barber-Say Syndrome
Ablepharon, Ectropion, Abnormal pinna morphology, Aplasia/Hypoplasia of the eyebrow, Sparse or ab... ORPHA:1231
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Dystonia, Babinski sign, Jerky head movements, Spastic dysarthria, Spast... ORPHA:251282
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Galactosialidosis
Corneal opacity ORPHA:351
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Ethmoidal encephalocele, Telecanthus, Eyelid coloboma, Low-set ears, Post... OMIM:607597
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Testicular atrophy, Parkinsonism with favorable response to dop... OMIM:157640
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Papilloma Of Choroid Plexus
Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis, Choroid plexus papilloma ORPHA:2807
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Premature Ovarian Failure 6
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotrop... OMIM:308750
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Optic atrophy OMIM:617830
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Cryptophthalmos, Ankyloblepharon OMIM:123570
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Hydrocephalus, Ventriculomegaly, Ataxia OMIM:618709
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, EEG abnormality, Myoclonus, Optic atrophy, Long eyelashes, Spasticity, Ventriculom... OMIM:617281
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Microtia, Cupped ear, Low-set, post... ORPHA:246
Familial Male-Limited Precocious Puberty
Precocious puberty, Long penis, Macroorchidism, Oligospermia ORPHA:3000
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... OMIM:308700
Wolfram Syndrome 1
Sensorineural hearing impairment, Testicular atrophy, Ataxia, Hypothyroidism, Tremor, Optic atrop... OMIM:222300
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Orbital cyst, Eyelid coloboma OMIM:164180
Neu-Laxova Syndrome 2
Low-set ears, Ablepharon, Spina bifida OMIM:616038
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Hypocholesterolemia OMIM:610539
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs ORPHA:2204
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Tremor, Ventriculomegaly, Hypsarrhythmia OMIM:619561
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Hydrocephalus, Hemiplegia/hemiparesis, Ataxia ORPHA:99966
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Frontonasal Dysplasia 3
Upper eyelid coloboma, Low-set, posteriorly rotated ears, Absent eyebrow, Sparse eyelashes OMIM:613456
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Episodic Ataxia Type 4
Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination ORPHA:79136
Pettigrew Syndrome
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Choreoathetos... OMIM:304340
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Minicore Myopathy With External Ophthalmoplegia
Pulmonary hypoplasia, Recurrent respiratory infections OMIM:255320
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis OMIM:601612
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... ORPHA:382
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Cerebral atrophy, Spasticity OMIM:617393
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly OMIM:604213
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:619150
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Temple Syndrome
Flexion contracture, Small for gestational age, Truncal obesity, Hypertriglyceridemia, Hyperchole... OMIM:616222
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Downslanted palpebral fissures, Eyelid coloboma, Hearing impairment, Ptosis OMIM:268850
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Fried Syndrome
Spastic diplegia, Hearing impairment, Hydrocephalus, Macrotia ORPHA:85335
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Growth Hormone Insensitivity Syndrome
Failure to thrive, Truncal obesity, Hypercholesterolemia ORPHA:181393
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... ORPHA:64753
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Frontofacionasal Dysplasia
Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Limbal dermoid,... ORPHA:1791
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Arrhinencephaly, Telecanthus, Narrow palpebral fissure, Blepharophimosis OMIM:300073
Partington Syndrome
Macroorchidism ORPHA:94083
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Diabetes mell... OMIM:235200
Myotonic Dystrophy 1
Cholelithiasis, Facial diplegia, Testicular atrophy, Frontal balding, Hypogonadism OMIM:160900
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Oculotrichoanal Syndrome
Cryptophthalmos, Nasolacrimal duct obstruction, Upper eyelid coloboma ORPHA:2717
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Microtia, Sparse eyelashes, Stenosis of the extern... OMIM:616367
Bartsocas-Papas Syndrome 1
Ablepharon, Ectropion, Ankyloblepharon, Absent eyebrow, Upslanted palpebral fissure, Microtia, Cu... OMIM:263650
Winchester Syndrome
Corneal opacity OMIM:277950
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... OMIM:619092
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Pulmonary artery atresia OMIM:618316
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonary hypoplasia OMIM:615415
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Hydrocephalus, Optic atrophy, Tremor, Spastic tetraparesis OMIM:619470
Primary Pulmonary Hypoplasia
Pneumothorax, Pulmonary hypoplasia, Recurrent respiratory infections, Abnormal pulmonary artery m... ORPHA:2257
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Teebi Hypertelorism Syndrome 2
Hearing impairment, Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Spasticity, Cerebral cortical atrophy OMIM:617820
Burn-Mckeown Syndrome
Conductive hearing impairment, Protruding ear, Short palpebral fissure, Lower eyelid coloboma, He... OMIM:608572
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Abnormal pyramidal sign, Optic atrophy, Hypsarrhythmia, Low-set ears, Abnormality ... OMIM:300884
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Nager Syndrome
Microtia, Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, Downslanted palpe... ORPHA:245
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Stereotypical hand wringing, Chorea OMIM:618760
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Thanatophoric Dysplasia
Pulmonary hypoplasia ORPHA:2655
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... ORPHA:157946
Gómez-López-Hernández Syndrome
Low-set ears, Hydrocephalus, Alopecia of scalp, Ataxia ORPHA:1532
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Hypercholesterolemia... OMIM:208920
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:1046
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... ORPHA:171673
Abcd Syndrome
Neonatal death, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, To... OMIM:600501
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplasia OMIM:611812
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Ablepharon Macrostomia Syndrome
Ablepharon, Cryptophthalmos, Absent eyebrow, Microtia, Atresia of the external auditory canal, Ab... ORPHA:920
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Macrotia OMIM:615541
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2725
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia OMIM:245348
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Motor stereotypy, Cerebral atrophy, Cerebellar atrophy OMIM:619690
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Fraser Syndrome 1
Myelomeningocele, Low-set ears, Hydrocephalus, Cryptophthalmos, Abnormal pinna morphology, Absent... OMIM:219000
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Aarskog-Scott Syndrome
Large earlobe, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, El... OMIM:305400
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Impotence, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor,... ORPHA:99027
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Brain atrophy, Tremor, Spasticity, Low-set ears OMIM:618718
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:266510
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Spasticity OMIM:600348
Krabbe Disease
Hypertonia, Hydrocephalus, EEG abnormality, Decreased nerve conduction velocity, Decerebrate rigi... OMIM:245200
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... OMIM:125250
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology ORPHA:2570
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensorineural hearing impairment, Hydrocephalus, Poor fine motor coordination, Hand tremor, Babin... ORPHA:99947
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Juvenile cataract, Male hypogonadism, Macroorchidism OMIM:300055
Neu-Laxova Syndrome 1
Ablepharon, Short umbilical cord, Hydranencephaly, Small placenta, Absent eyelashes, Macrotia, Pt... OMIM:256520
Central Neurocytoma
Hydrocephalus, Ataxia, Babinski sign, Tinnitus, Abnormal lateral ventricle morphology ORPHA:73256
Mandibuloacral Dysplasia
Increased adipose tissue around the neck, Lipoatrophy, Increased circulating free fatty acid leve... ORPHA:2457
Hyperprolinemia, Type I
Motor stereotypy, Ataxia OMIM:239500
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Cerebral atrophy, Spasticity ORPHA:500545
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Odontochondrodysplasia 1
Pulmonary hypoplasia, Recurrent respiratory infections OMIM:184260
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Spinocerebellar atrophy, Head tremor, Spastic dysarthria, Optic at... ORPHA:95433
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn... ORPHA:231169
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Ablepharon-Macrostomia Syndrome
Ablepharon, Cryptophthalmos, Absent eyebrow, Microtia, first degree, Hearing impairment, Absent e... OMIM:200110
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements OMIM:618218
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Morgagni-Stewart-Morel Syndrome
Obesity, Action tremor, Hyperuricemia, Hypercholesterolemia ORPHA:77296
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Macrotia, Synophrys,... OMIM:609637
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Bresek Syndrome
Hydrocephalus, Protruding ear, Cryptorchidism, Alopecia, Optic nerve hypoplasia, Neonatal death, ... ORPHA:85284
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of truncal su... OMIM:151660
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Oculocerebrocutaneous Syndrome
Hydrocephalus, External ear malformation, Eyelid coloboma, Hearing impairment, Ptosis ORPHA:1647
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Lissencephaly 5
Hydrocephalus, Spastic paraplegia, Optic atrophy, Hearing impairment, Occipital encephalocele OMIM:615191
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical atrophy, Jer... ORPHA:157941
Lesch-Nyhan Syndrome
Testicular atrophy, Opisthotonus, Choreoathetosis, Spasticity, Podagra, Abnormality of extrapyram... OMIM:300322
1Q21.1 Microduplication Syndrome
Hypospadias, Hydrocephalus, Cryptorchidism, Hypertonia ORPHA:250994
Helsmoortel-Van Der Aa Syndrome