Gene: Celsr1 MGI:1100883

Gene Summary

Name:

cadherin, EGF LAG seven-pass G-type receptor 1

Synonyms:

Crsh, Scy, Adgrc1, crash

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Celsr1^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating HDL cholesterol level	Celsr1^Scy	HET	Early adult	7.73×10^-05
enlarged spleen	Celsr1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased lean body mass	Celsr1^Crsh	HET	Early adult	7.16×10^-09
preweaning lethality, incomplete penetrance	Celsr1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Celsr1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal head morphology	Celsr1^Crsh	HET	Early adult	1.26×10^-11
corneal opacity	Celsr1^Crsh	HET	Early adult	2.56×10^-05
increased total body fat amount	Celsr1^Scy	HET	Early adult	1.57×10^-08
abnormal spleen morphology	Celsr1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal snout morphology	Celsr1^Scy	HET	Early adult	6.48×10^-10
increased brain size	Celsr1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal startle reflex	Celsr1^Scy	HET	Early adult	3.35×10^-05
enlarged testis	Celsr1^em1(IMPC)Mbp	HET	Early adult	0.00
cataract	Celsr1^em1(IMPC)Mbp	HET	Early adult	2.67×10^-05
abnormal brain morphology	Celsr1^em1(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.

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.

Human diseases associated with Celsr1 (1 diseases)
Human diseases predicted to be associated with Celsr1 (1595 diseases)

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	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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