Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00
increased circulating HDL cholesterol level Celsr1Scy HET Early adult 7.73×10-05
enlarged spleen Celsr1em1(IMPC)Mbp HET Early adult 0.00
decreased lean body mass Celsr1Crsh HET Early adult 7.16×10-09
preweaning lethality, incomplete penetrance Celsr1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal testis morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00
abnormal head morphology Celsr1Crsh HET Early adult 1.26×10-11
corneal opacity Celsr1Crsh HET   Early adult 2.56×10-05
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 snout morphology Celsr1Scy HET Early adult 6.48×10-10
increased brain size Celsr1em1(IMPC)Mbp HET Early adult 0.00
abnormal startle reflex Celsr1Scy HET Early adult 3.35×10-05
enlarged testis Celsr1em1(IMPC)Mbp HET Early adult 0.00
cataract Celsr1em1(IMPC)Mbp HET   Early adult 2.67×10-05
abnormal brain morphology Celsr1em1(IMPC)Mbp HET Early adult 0.00

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Viewing: all phenotypes

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.

Phenotype associated images not available

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
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Dermoids Of Cornea
Corneal opacity OMIM:304730
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia OMIM:614096
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia OMIM:274210
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 dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Treacher Collins Syndrome 3
Conductive hearing impairment, Downslanted palpebral fissures, Lower eyelid coloboma, Abnormality... OMIM:248390
Mandibulofacial Dysostosis With Mental Retardation
Abnormality of the outer ear, Abnormality of the pinna, Downslanted palpebral fissures, Lower eye... OMIM:248400
Tuberculosis
Abnormal lung morphology ORPHA:3389
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Spastic tetraplegia, Hearing impairment OMIM:258700
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Hearing impairment, Periodontitis, Hydrocephalus, EEG abnorm... ORPHA:1008
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Congenital extraocular muscle anomaly, Lower eyelid coloboma OMIM:165600
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Corneal Hypesthesia, Familial
Recurrent corneal erosions, Decreased corneal sensation OMIM:122450
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Distal Trisomy 14Q
Abnormal lung lobation ORPHA:1705
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Upper eyelid coloboma, Absent lacrimal punctum, Ectopic lacrimal punctum,... OMIM:167730
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs ORPHA:3346
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous ... ORPHA:2258
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... OMIM:617862
Morquio Syndrome C
Corneal opacity OMIM:252300
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Fasciculations, Decreased fertility OMIM:313200
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia OMIM:613909
Pineocytoma
Hearing abnormality, Episodic ataxia, Hydrocephalus, Increased CSF protein ORPHA:251912
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia OMIM:619003
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Treacher Collins Syndrome 4
Conductive hearing impairment, Downslanted palpebral fissures, Lower eyelid coloboma OMIM:618939
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Spina bifida, Eyelid colob... ORPHA:1104
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia OMIM:224410
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus, Abnormality of the ear OMIM:600257
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Barber-Say Syndrome
Ectropion, Telecanthus, Abnormality of the pinna, Hearing impairment, Sparse or absent eyelashes,... ORPHA:1231
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia OMIM:616733
Alexander Disease
Ataxia, Hydrocephalus, Spasticity, Increased CSF protein OMIM:203450
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Precocious puberty, Long penis ORPHA:3000
Galactosialidosis
Corneal opacity ORPHA:351
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Prominent ear helix ORPHA:100973
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements, Vertigo ORPHA:71518
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Stereotypy OMIM:617830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Rigidity, Facial palsy, Bradykinesia, Sensorineural hea... OMIM:157640
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Ablepharon-Macrostomia Syndrome
Ablepharon, Absent eyebrow, Absent eyelashes, Cryptophthalmos, Microtia, third degree OMIM:200110
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hypertonia, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:2807
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Jerky head movements, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spa... ORPHA:251282
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos OMIM:123570
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Winchester Syndrome
Corneal opacity OMIM:277950
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Optic atrophy, Myoclonus, Macrotia, Long eyelashes, Ventriculomegaly, ... OMIM:617281
Intellectual Developmental Disorder, Autosomal Recessive 39
Macrotia, Anteverted ears, Stereotypy OMIM:615541
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia OMIM:241800
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia, Ventriculomegaly OMIM:619561
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Ataxia, Hydrocephalus, Ventriculomegaly OMIM:618709
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Downslanted palpebral fissures,... ORPHA:246
Wolfram Syndrome 1
Testicular atrophy, Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Ataxia, ... OMIM:222300
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Abnormality of extrapyramidal motor function, Hypsarrhythmia, Abnormal pyramidal s... OMIM:300884
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Pulmonary hypoplasia OMIM:616867
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs ORPHA:2204
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Frontonasal Dysplasia 3
Upper eyelid coloboma, Sparse eyelashes, Absent eyebrow, Low-set, posteriorly rotated ears OMIM:613456
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Atypical Teratoid Rhabdoid Tumor
Cerebral palsy, Ataxia, Hydrocephalus, Hemiplegia/hemiparesis ORPHA:99966
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis OMIM:601612
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Albinism, Hearing impairment OMIM:600501
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Episodic Ataxia Type 4
Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination ORPHA:79136
Pettigrew Syndrome
Dandy-Walker malformation, High-frequency hearing impairment, Choreoathetosis, Ventriculomegaly, ... OMIM:304340
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Minicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Partington Syndrome
Macroorchidism ORPHA:94083
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Stereotypy, Spasticity, Cerebral atrophy OMIM:617393
Richieri-Costa/Guion-Almeida Syndrome
Ptosis, Downslanted palpebral fissures, Hearing impairment, Eyelid coloboma, Spina bifida occulta OMIM:268850
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly, Severe sensorineural hearing impairment OMIM:604213
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Fried Syndrome
Spastic diplegia, Macrotia, Hydrocephalus, Hearing impairment ORPHA:85335
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Spasticity ORPHA:99852
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Chromosome 3Q29 Deletion Syndrome
Macrotia, Posteriorly rotated ears, Stereotypy, Low-set ears, Gait ataxia OMIM:609425
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Matthew-Wood Syndrome
Pulmonary hypoplasia, Abnormal lung morphology ORPHA:2470
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Sparse eyelashes, Low-set ears, Lower eyelid coloboma, Stenosis of... OMIM:616367
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atr... OMIM:619092
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Ataxia, Slowed slurred speech, Progressive sensorineural hearing impairment OMIM:172500
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Conductive hearing impairment, Upper eyelid coloboma, Microtia ORPHA:398156
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction ORPHA:2717
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Myotonic Dystrophy 1
Testicular atrophy, Frontal balding, Facial diplegia, Cholelithiasis, Hypogonadism OMIM:160900
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Alopecia, Diabetes me... OMIM:235200
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ventriculomegaly, Ataxia, EEG abnor... OMIM:619150
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Ectropion, Upslanted palpebral fissure, Ankyloblepharon, Absent eyebrow, Abs... OMIM:263650
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Renal-Hepatic-Pancreatic Dysplasia 2
Pulmonary hypoplasia OMIM:615415
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Telecanthus, Posteriorly rotated ears, Low-set ears, Eyelid coloboma OMIM:607597
Burn-Mckeown Syndrome
Conductive hearing impairment, Lower eyelid coloboma, Short palpebral fissure, Protruding ear, Bl... OMIM:608572
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairm... OMIM:617519
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Pulmonary hypoplasia ORPHA:2847
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Abnormal lung lobation OMIM:263210
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy OMIM:613987
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Meckel Syndrome, Type 6
Pulmonary hypoplasia OMIM:612284
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Pulmonary artery atresia OMIM:618316
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Optic atrophy, Spastic tetraparesis, Stereotypy OMIM:619470
Thanatophoric Dysplasia
Pulmonary hypoplasia ORPHA:2655
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Pulmonary hypoplasia OMIM:611812
Nager Syndrome
Ptosis, Low-set, posteriorly rotated ears, Downslanted palpebral fissures, Lower eyelid coloboma,... ORPHA:245
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Amyotrophic lateral sclerosis, Spasticity, Stereotypy OMIM:612069
Nephronophthisis 2
Pulmonary hypoplasia OMIM:602088
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements OMIM:618218
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Primary Pulmonary Hypoplasia
Pneumothorax, Recurrent respiratory infections, Pulmonary hypoplasia, Abnormal pulmonary artery m... ORPHA:2257
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Krabbe Disease
Progressive spasticity, Optic atrophy, Decreased nerve conduction velocity, Hearing impairment, D... OMIM:245200
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:617895
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Ablepharon Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hearing impairment, Cryptophthalmos, Atresia of the external au... ORPHA:920
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology ORPHA:2570
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:1046
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Mental Retardation, Autosomal Dominant 48
Hypospadias, Highly arched eyebrow, Eczema, Dilated fourth ventricle, Abnormality of the pinna, S... OMIM:617751
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Optic atrophy, Hydrocephalus ORPHA:1538
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2725
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progressive sensorineural... OMIM:125250
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Hyperprolinemia, Type I
Ataxia, Stereotypy OMIM:239500
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormal pyramidal sign, Clonus, Orthostatic hypotension, Dy... ORPHA:99027
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia ORPHA:994
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Fraser Syndrome 1
Conductive hearing impairment, Upper eyelid coloboma, Morphological abnormality of the middle ear... OMIM:219000
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Cataract ORPHA:1875
Band Heterotopia
Hydrocephalus, Spasticity, Ventriculomegaly OMIM:600348
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Macrotia, Absent eyelashes, Small placenta, Stillbirth, Sp... OMIM:256520
Gómez-López-Hernández Syndrome
Ataxia, Low-set ears, Alopecia of scalp, Hydrocephalus ORPHA:1532
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Hypercholesterolem... OMIM:612526
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity, Cerebral atrophy ORPHA:500545
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Juvenile cataract, Male hypogonadism OMIM:300055
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia ORPHA:171430
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Cataract, Splenomegaly ORPHA:79238
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Orbital cyst OMIM:164180
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Huntington Disease-Like 3
Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor function, P... ORPHA:157946
Aarskog-Scott Syndrome
Large earlobe, Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilat... OMIM:305400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Optic atrophy, Babinski sign, Frequent falls, Hand tremor, Vocal cord paralysis,... ORPHA:99947
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Spastic dysarthria, Hearing impair... ORPHA:95433
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Brain atrophy, Spasticity, Low-set ears OMIM:618718
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Branchial fi... OMIM:602588
Holoprosencephaly 5
Lobar holoprosencephaly, Holoprosencephaly, Macrotia, Syntelencephaly, Central diabetes insipidus... OMIM:609637
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, ... ORPHA:231169
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Frontofacionasal Dysplasia
Limbal dermoid, Upper eyelid coloboma, Ptosis, Telecanthus, Absent inner eyelashes, Aplasia/Hypop... ORPHA:1791
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Rigidity, Neuronal loss in central nervous system, Myoclonus, Stereotypy, Cerebral... OMIM:600795
Lesch-Nyhan Syndrome
Testicular atrophy, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, ... OMIM:300322
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Fryns Microphthalmia Syndrome
Macrotia, Neural tube defect, Abnormality of the ear OMIM:600776
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Erectile dysfunction,... ORPHA:465508
Helsmoortel-Van Der Aa Syndrome
Narrow palpebral fissure, Ptosis, Low-set, posteriorly rotated ears, Downslanted palpebral fissur... OMIM:615873
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Abnormality of somatosensory evoked potentials, Absent brainstem au... ORPHA:52368
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Bresek Syndrome
Aganglionic megacolon, Neonatal death, Alopecia, Optic nerve hypoplasia, Hearing impairment, Hydr... ORPHA:85284
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Cerebellar atrophy, Jerky head movements, Frequent falls, Dysm... ORPHA:157941
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism ORPHA:3077
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing OMIM:618760
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Oculocerebrocutaneous Syndrome
Ptosis, Hearing impairment, Hydrocephalus, External ear malformation, Eyelid coloboma ORPHA:1647
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... ORPHA:8
Central Neurocytoma
Babinski sign, Ataxia, Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus ORPHA:73256
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia OMIM:251230
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Toriello-Lacassie-Droste Syndrome
Limbal dermoid, Aganglionic megacolon, Telecanthus, Epicanthus, Short palpebral fissure, Hearing ... ORPHA:3339
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Chorea, Stereotypy, Stereotypical hand wringing, Spasticity, Cerebral atrophy... OMIM:618917
Adult Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Frequen... ORPHA:206448
Polyembryoma
Macroorchidism, Isosexual precocious puberty, Abdominal mass, Abnormality of the peritoneum ORPHA:180229
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Jeune Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:474
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Fragile X Syndrome
Macroorchidism ORPHA:908
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Lissencephaly 5
Spastic paraplegia, Optic atrophy, Hydrocephalus, Hearing impairment OMIM:615191
1Q21.1 Microduplication Syndrome
Hypospadias, Hypertonia, Hydrocephalus, Cryptorchidism ORPHA:250994
Congenital Hydrocephalus
Optic atrophy, Colpocephaly, Posteriorly rotated ears, Ventriculomegaly, Sensorineural hearing im... ORPHA:2185
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Atkin-Flaitz Syndrome
Macroorchidism OMIM:300431
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Frequent falls, Decreased nerve conduction velocity, Lower limb spasticity, Tremor, T... ORPHA:206443
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Bartsocas-Papas Syndrome
Popliteal pterygium, Ankyloblepharon, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebr... ORPHA:1234
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... OMIM:601596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections OMIM:215520
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pulmonary hypoplasia OMIM:263200
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs ORPHA:93298
Masa Syndrome
Paraplegia, Lower limb spasticity, Ventriculomegaly, Hydrocephalus, Spastic paraplegia OMIM:303350
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Absent facial hair, Hydrocephalus, H... ORPHA:2183
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism, Hypoplasia of penis ORPHA:1381
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Asymmetr... ORPHA:3063
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:2635
Jeavons Syndrome
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... ORPHA:139431
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... ORPHA:91348
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... OMIM:615703
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Macrotia, Stereotypy, Ataxia, Spasticity, Limb ataxia OMIM:617695
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Acrofrontofacionasal Dysostosis
Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma, Downslanted palpebral fissures, Ptosis ORPHA:1784
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform discharges, Hyp... ORPHA:88616
Non-Functioning Pituitary Adenoma
Macroorchidism, Anemia of inadequate production, Macroorchidism, postpubertal, Adrenocorticotropi... ORPHA:91349
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Fraser Syndrome 3
Cryptophthalmos OMIM:617667
Maternal Uniparental Disomy Of Chromosome 2
Pulmonary hypoplasia, Respiratory infections in early life ORPHA:96179
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Eczema, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hypert... ORPHA:352490
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs ORPHA:93299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Pleural effusion OMIM:616897
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Sparse scalp hair, Macrotia, Hearing impairment, Hydrocephalus... ORPHA:2701
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Downslanted palpebral fissures, Posteriorly rotated ears, Exencephaly, Low-set ears, Eyel... ORPHA:2211
4Q21 Microdeletion Syndrome
Long eyelashes, Hearing impairment, Ventriculomegaly, Stereotypy, Tremor, Generalized hirsutism, ... ORPHA:238750
Papillary Tumor Of The Pineal Region
Hearing abnormality, Episodic ataxia, Hydrocephalus, Increased CSF protein ORPHA:251915
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Macrotia, Sparse eyebrow, Ventriculomegaly, Thick eyebrow, EEG abnormality, Recurrent hand flapping OMIM:617268
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Fraser Syndrome
Conductive hearing impairment, Death in infancy, Myelomeningocele, Low-set, posteriorly rotated e... ORPHA:2052
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Momo Syndrome
Eyelid coloboma, Underfolded helix, Epicanthus, Downslanted palpebral fissures OMIM:157980
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Mccune-Albright Syndrome
Macroorchidism, Goiter, Hepatitis, Bone marrow hypocellularity, Hepatocellular adenoma, Pancreati... ORPHA:562
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Caudal Regression Sequence
Pulmonary hypoplasia ORPHA:3027
Diencephalic Syndrome
Optic atrophy, Long penis, Abnormality of the hypothalamus-pituitary axis, Macrotia, Hydrocephalus ORPHA:1672
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Fraser Syndrome 2
Cryptophthalmos OMIM:617666
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cataract OMIM:613730
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Achondroplasia
Conductive hearing impairment, Recurrent otitis media, Hydrocephalus OMIM:100800
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Upper eyelid coloboma, Mixed hearing impairment OMIM:603463
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Upper eyelid coloboma, Umbilical hernia, Abnormal eyelid morphology ORPHA:2095
Scimitar Syndrome
Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Anomalous pulmonary venous return, Pulm... ORPHA:185
Biemond Syndrome Type 2
Hypospadias, Hypogonadotropic hypogonadism, Hypogonadism, Hydrocephalus, Delayed puberty ORPHA:141333
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Spasticity, Progressive spasti... ORPHA:280763
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Pick Disease Of Brain
Neuronal loss in central nervous system, Stereotypy OMIM:172700
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Kagami-Ogata Syndrome
Pulmonary hypoplasia OMIM:608149
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypospadias, Highly arched eyebrow, Eczema, Abnormal earlobe morphology, Congenital sensorineural... ORPHA:500159
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Epicanthus, Stapes ankylosis, Progress... ORPHA:90646
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Central Precocious Puberty
Abnormality of secondary sexual hair, Acne, Increased circulating gonadotropin level, Isosexual p... ORPHA:759
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Pyruvate Dehydrogenase E2 Deficiency
Oculomotor apraxia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Multiple Acyl-Coa Dehydrogenase Deficiency
Pulmonary hypoplasia OMIM:231680
Manitoba Oculotrichoanal Syndrome
Eyelid coloboma, Nasolacrimal duct obstruction OMIM:248450
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Pulmonary hypoplasia OMIM:616866
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... ORPHA:1215
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Christianson Syndrome
Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Stereotypy, Truncal ataxia... ORPHA:85278
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Jacobsen Syndrome
Optic atrophy, Ptosis, Holoprosencephaly, Telecanthus, Epicanthus, Nasolacrimal duct obstruction,... OMIM:147791
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ataxia, Progressive cerebel... ORPHA:247815
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Low anterior hairline, Prominent ear helix, Long eyelashes, Hypsarrhythmia, Myoclo... ORPHA:411986
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Diaphanospondylodysostosis
Pulmonary hypoplasia OMIM:608022
Joubert Syndrome 21
Pulmonary hypoplasia OMIM:615636
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Mental Retardation, Autosomal Dominant 7
Macrotia, Abnormality of the pinna, Stereotypy, Ataxia, Incoordination, Stereotypical hand wringi... OMIM:614104
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
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