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Gene: Nosip MGI:1913644

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Gene Summary

Name:
nitric oxide synthase interacting protein
Synonyms:
CGI-25,  2310061K06Rik

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 System Allele Zyg Sex Life Stage P Value
abnormal lens morphology Nosipem1(IMPC)Tcp HET   Early adult 7.07×10-07
abnormal embryo size Nosipem1(IMPC)Tcp HOM E15.5 0.00
preweaning lethality, complete penetrance Nosipem1(IMPC)Tcp HOM   Early adult 0.00
edema Nosipem1(IMPC)Tcp HOM E15.5 0.00
abnormal retina blood vessel morphology Nosipem1(IMPC)Tcp HET   Early adult 3.01×10-05
abnormal retina vasculature morphology Nosipem1(IMPC)Tcp HET   Early adult 4.48×10-05

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Viewing: all phenotypes
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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.

Eye Morphology

Images Slit Lamp

96 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

103 Images

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Gross Morphology Embryo E14.5-E15.5

Images

16 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Nosip mutations

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

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

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipedema
Edema OMIM:614103
Holoprosencephaly 5
Anteverted nares, Depressed nasal bridge, Syntelencephaly, Alobar holoprosencephaly, Hyperteloris... OMIM:609637
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Decreased resp... OMIM:147250
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Cerebrooculonasal Syndrome
Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Iris coloboma, Dandy-Walke... OMIM:605627
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... ORPHA:280200
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Frontofacionasal Dysplasia
Encephalocele, Cataract, Depressed nasal bridge, Choanal atresia, Hypertelorism, Bifid nasal tip,... ORPHA:1791
Holoprosencephaly 2
Aplasia of the nasal bone, Alobar holoprosencephaly, Hypotelorism, Holoprosencephaly, Chorioretin... OMIM:157170
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Acromelic Frontonasal Dysostosis
Encephalocele, U-Shaped upper lip vermilion, Remnants of the hyaloid vascular system, Optic nerve... OMIM:603671
Holoprosencephaly 7
Flat occiput, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hypotelorism, Hy... OMIM:610828
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Aplasia/Hypoplasia involving the nose, Microglossia, Absent nares, Holopros... ORPHA:990
Proboscis Lateralis
Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, Microcornea, Hig... ORPHA:141099
Unilateral Ocular Duplication
Encephalocele, Frontal bossing, Median cleft lip, Hypertelorism, Abnormal pupil morphology, Midli... ORPHA:3374
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Holoprosencephaly 14
Frontal bossing, Ventriculomegaly, Median cleft lip, Anteverted nares, Proboscis, Alobar holopros... OMIM:619895
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Spina bifida, Hypertelorism, Abnormal nasal morphology, Non-midlin... ORPHA:1104
Frontonasal Dysplasia 1
Cataract, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypertel... OMIM:136760
Holoprosencephaly 1
Proboscis, Alobar holoprosencephaly, Facial cleft, Hypotelorism, Aplasia of the nose, Microphthal... OMIM:236100
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
16P13.11 Microdeletion Syndrome
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Cyclopia, Ex... ORPHA:261236
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Acalvaria
Spina bifida, Hypertelorism, Hydrocephalus, Cleft palate, Holoprosencephaly, Calvarial skull defect ORPHA:945
Holoprosencephaly
Flat occiput, Anophthalmia, Deep philtrum, Depressed nasal ridge, Hypotelorism, Deeply set eye, A... ORPHA:2162
Hartsfield Syndrome
Encephalocele, Depressed nasal bridge, Craniosynostosis, Hypertelorism, Non-midline cleft lip, Cl... ORPHA:2117
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Hypertelorism, Abnormal exte... ORPHA:141091
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Trisomy 18
Microcornea, Holoprosencephaly, Iris coloboma, Microretrognathia, Spina bifida, Hypertelorism, Es... ORPHA:3380
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Hyp... OMIM:613443
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Alobar holoprosenc... OMIM:301043
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Coloboma, Microp... ORPHA:324416
Triploidy
Cataract, Intestinal malrotation, Micrognathia, Hypertelorism, Hydrocephalus, Meningocele, Non-mi... ORPHA:3376
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Pseudotrisomy 13 Syndrome
Encephalocele, Cleft upper lip, Hydrocephalus, Hypotelorism, Holoprosencephaly, Microphthalmia, C... OMIM:264480
Hydrolethalus
Anophthalmia, Micrognathia, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate... ORPHA:2189
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Hydrocephalus,... ORPHA:2166
Holoprosencephaly 11
Cleft lip, Cleft palate, Hypotelorism, Proptosis, Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Cataract, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, ... OMIM:614105
Chromosome 1Q41-Q42 Deletion Syndrome
Tented upper lip vermilion, Deep philtrum, Hypotelorism, Deeply set eye, High palate, Holoprosenc... OMIM:612530
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft lip, Hypertelorism, Cleft palate, Proptosis, Holoprosencephaly, Cyclopia ORPHA:2165
Adams-Oliver Syndrome 2
Depressed nasal bridge, Cutis marmorata, Micrognathia, Hypertelorism, Bulbous nose, Hydrocephalus... OMIM:614219
Fryns Microphthalmia Syndrome
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia OMIM:600776
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Hypotelorism, Microphthalmia, Ag... OMIM:218670
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Hypertelorism, Brachycephaly, Plagiocephaly, High palate, Short philtru... OMIM:615433
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Alobar Holoprosencephaly
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Median cleft lip, Decreased response to growth hormone stimulation test, Proboscis... ORPHA:220386
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Cleft palate, Microphthalmia, Cutaneous photosensitivity, Agenesis of corpus callos... OMIM:616570
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Gingival fi... ORPHA:1832
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Orbital encephalocele, Cleft palate, Microphthalmia, Agenesis of co... OMIM:164180
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
2Q24 Microdeletion Syndrome
Central apnea, Cataract, Hypertelorism, Abnormality iris morphology, Cleft palate, Coloboma, Abno... ORPHA:1617
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Encephalocele, Micrognathia, Hypertelorism, Hydrocephalus, Meningocele, An... ORPHA:1908
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Depressed nasal bridge, Prematurely aged appearance, Micrognathia, Brachycephaly, Hypot... ORPHA:1387
Microphthalmia, Syndromic 12
Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft pal... OMIM:615524
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Choanal atresia, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, B... OMIM:607597
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior encephalocel... OMIM:601357
Global Developmental Delay With Or Without Impaired Intellectual Development
Frontal bossing, Thin upper lip vermilion, Bulbous nose, Hypotelorism, Plagiocephaly, Lateral ven... OMIM:618330
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Band Heterotopia
Hydrocephalus, Plagiocephaly, Lateral ventricle dilatation, Agenesis of corpus callosum, Ventricu... OMIM:600348
Craniosynostosis 6
Turricephaly, Craniosynostosis, Hypertelorism, Parietal foramina, Spina bifida occulta, Brachycep... OMIM:616602
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Coloboma, Microphthalmia OMIM:600251
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Cataract OMIM:615995
Cutis Laxa, Autosomal Recessive, Type Iib
Frontal bossing, Prominent superficial veins, Narrow nasal ridge, Hypertelorism, Bulbous nose, Hy... OMIM:612940
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Frontal bossing, Thin upper lip vermilion, Anteverted nares, Micrognathia, Hypertelorism, Bulbous... OMIM:613604
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Hypertelorism, Broad nasal tip, Wide nasal ... OMIM:615716
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Thin upper lip vermilion, ... OMIM:615042
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Smooth philtrum, Micrognathia, High, narrow palate, Hydrocephalus, Ileus, Hypotelorism, Colpoceph... OMIM:620156
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Iris coloboma,... ORPHA:861
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Cutis marmor... OMIM:614701
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Frontonasal Dysplasia 3
Hypertelorism, Underdeveloped nasal alae, Brachycephaly, Wide nasal bridge, Cleft palate, Facial ... OMIM:613456
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Hypertelorism, Orofacial cleft, Wide mouth, Coloboma, Long philtrum, Tr... OMIM:614583
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Cataract, Corneal opacity, Hydrocephalus, Respiratory insufficiency, Coloboma, ... OMIM:613153
1Q41Q42 Microdeletion Syndrome
Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cl... ORPHA:250999
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Depressed nasal bridge, Craniosynostosis, Micrognathia, Hypertelorism, Lateral ventricle dilatati... ORPHA:284417
Oculomaxillofacial Dysostosis
Median cleft lip, Corneal opacity, Underdeveloped nasal alae, Abnormality of the nose, Micrognath... ORPHA:1794
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosen... OMIM:202650
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Apnea, Erythema, Wide na... OMIM:610015
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Prominent nasal bridge, Broad nasal tip, Micrognathia, Hypertelorism, H... OMIM:613544
Malan Overgrowth Syndrome
Frontal bossing, Depressed nasal bridge, Optic disc hypoplasia, Scaphocephaly, Plagiocephaly, Dee... ORPHA:420179
Mycophenolate Mofetil Embryopathy
Micrognathia, Hypertelorism, Hydrocephalus, Tracheoesophageal fistula, Facial cleft, Orofacial cl... ORPHA:268249
Cerebrooculonasal Syndrome
Anophthalmia, Hypertelorism, Brachycephaly, Facial cleft, High palate, Widely spaced teeth, Solit... ORPHA:66625
Monosomy 18P
Micrognathia, Carious teeth, Brachycephaly, Wide nasal bridge, Cleft palate, Downturned corners o... ORPHA:1598
Trisomy 1Q
Microretrognathia, Frontal bossing, Wide nose, Anophthalmia, Depressed nasal bridge, Hyperteloris... ORPHA:261344
Alg2-Cdg
Lateral ventricle dilatation, Cataract, Iris coloboma, Wide nasal bridge ORPHA:79326
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Flat occiput, Optic nerve hypoplasia, Spina bifida occulta, Brachycephaly, Lateral ventricle dila... OMIM:618736
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Thanatophoric Dysplasia Type 2
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Hydrocephalus, Respirat... ORPHA:93274
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Anteverted nares, Macrodontia, Hypertelorism, Asthma, Pleural effusion,... OMIM:618606
Distal Deletion 13Q
Encephalocele, Hypertelorism, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia affecting the ey... ORPHA:1590
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... OMIM:619452
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Cleft upper lip, Brachycephaly, Cleft palate, Hypotelorism, Deeply set eye... OMIM:268850
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Depressed nasal ridge, Cle... OMIM:613885
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Turricephaly, Craniosynostosis, Hypertelorism, Bulbous nose, Brachycephaly, Wide... OMIM:613174
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopro... ORPHA:77298
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Corneal opacity, Hypertelorism, Calvarial skull defect, Hydrocephalus, Facial c... ORPHA:1647
Developmental And Epileptic Encephalopathy 87
Hypertelorism, Prominent nose, Bulbous nose, Hypotelorism, Wide mouth, High palate, Widely spaced... OMIM:618916
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Underdeveloped nasal alae, Hypoplasia of the maxilla, Hypertelorism, Wide nasal bridge,... ORPHA:306542
Mosaic Trisomy 9
Ventriculomegaly, Corneal opacity, Intestinal malrotation, Spina bifida, Micrognathia, Hypertelor... ORPHA:99776
Non-Distal Duplication 13Q
Micrognathia, Abnormality of the dentition, Hypotelorism, Thin vermilion border, High palate, Eve... ORPHA:1702
Trisomy 13
Anophthalmia, Cataract, Median cleft lip, Abnormality of the dentition, Calvarial skull defect, H... ORPHA:3378
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Congenital Hydrocephalus
Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Macular hypoplasia, Iris coloboma, Ve... ORPHA:2185
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Frontal bossing, Thin upper lip vermilion, Anteverted nares, High, narrow p... OMIM:612863
Tonne-Kalscheuer Syndrome
Prominent nasal bridge, Prominent nose, Micrognathia, Hypertelorism, Velopharyngeal insufficiency... OMIM:300978
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... ORPHA:141152
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Anteverted nares, Hypertelorism, Depressed nasal ridge, Brachycephaly, Hyp... OMIM:618672
Walker-Warburg Syndrome
Ventriculomegaly, Anophthalmia, Corneal opacity, Cataract, Hydrocephalus, Submucous cleft hard pa... ORPHA:899
Martsolf Syndrome 2
Lateral ventricle dilatation, Cataract, Developmental cataract, Broad nasal tip OMIM:619420
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
6P22 Microdeletion Syndrome
Deeply set eye, Hydrocephalus, Abnormal palate morphology, Hypotelorism ORPHA:251046
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Distal Monosomy 7Q36
Micrognathia, Bulbous nose, Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal calvaria mo... ORPHA:1636
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Hypotelorism, Prominent occiput, Hypoxemia, Hypoplasia of the ... ORPHA:556955
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Prominent nose, Micrognathia, Partial agenesis of the corpus callosum, Microcornea, Pro... OMIM:616171
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism... OMIM:617822
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Flat occiput, Decreased response to growth hormone stimulation test, Anteri... ORPHA:177907
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Microcornea OMIM:251505
Trigonocephaly With Short Stature And Developmental Delay
Sagittal craniosynostosis, Wide nasal bridge, Hypotelorism, High palate, Broad alveolar ridges, L... OMIM:314320
Lambotte Syndrome
Hypertelorism, Narrow mouth, Intrauterine growth retardation, Ocular anterior segment dysgenesis,... OMIM:245552
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Respiratory insufficiency, Microcornea, Abnormal calvaria morphology, Microphtha... ORPHA:2432
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Brachycephaly, W... OMIM:613451
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Death in infancy, Neonatal respiratory distress, Tented upper lip vermilio... OMIM:618622
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft lip, Orofacial cleft, Hypotelorism, Holoprosencephaly, Aplasia of the nose, Micropht... ORPHA:3186
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Lateral ventricle dilatation, Micrognathia OMIM:618266
Pierpont Syndrome
Smooth philtrum, Thin upper lip vermilion, Wide nasal ridge, Hypertelorism, Abnormal subcutaneous... ORPHA:487825
Alg13-Cdg
Long philtrum, Abnormal lateral ventricle morphology, Anteverted nares, Hypertelorism ORPHA:324422
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Lateral ventricle dilatation, Anteverted nares OMIM:300982
Ritscher-Schinzel Syndrome 4
Hypertelorism, Brachycephaly, Wide nasal bridge, Hypotelorism, Plagiocephaly, Mild fetal ventricu... OMIM:619435
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Deeply set eye, Choanal stenosis, High palate, Death in infancy, A... OMIM:615485
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Chromosome 13Q14 Deletion Syndrome
Frontal bossing, Thin upper lip vermilion, Micrognathia, Bulbous nose, Deep philtrum, Hypoteloris... OMIM:613884
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Hypotelorism, Narrow mouth, Microphthalmia, Anal atresia ORPHA:3469
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Micrognathia, Respiratory insufficiency due to muscle weakness, Lateral ventricle ... OMIM:618291
Frontoocular Syndrome
Prominent nasal bridge, Micrognathia, Narrow philtrum, Hypotelorism, Proptosis, High palate, Narr... OMIM:605321
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Wide nasal bridge, Hypotelorism, Multiple suture craniosynostosis, Broad secondary alveolar ridge... ORPHA:3369
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Median cleft lip, Bilateral cleft lip, Micrognathia, Hydr... OMIM:612651
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Jacobsen Syndrome
U-Shaped upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal bridge, Micrognathi... OMIM:147791
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Microcornea, High palate, Chorioretinal coloboma, Microphth... ORPHA:139471
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Anteverted nares, Prominent nasal bridge, Recurrent pneumonia, Plagioce... OMIM:617751
Perching Syndrome
Respiratory distress, High palate, Cyanosis, Depressed nasal bridge OMIM:617055
Distal Deletion 10Q
Smooth philtrum, Frontal bossing, Thin upper lip vermilion, Prominent nasal bridge, Craniosynosto... ORPHA:96148
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Anteverted nares, Micrognathia, Wide nasal bridge, Developmental catara... OMIM:600118
2Q23.1 Microduplication Syndrome
Thin upper lip vermilion, Dental crowding, Prominent nose, Abnormality of the dentition, Bulbous ... ORPHA:313947
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Exaggerated cupid's bow, Hyp... ORPHA:464738
Trichothiodystrophy 3, Photosensitive
Eclabion, Natal tooth, Cataract, Carious teeth, Pyloric stenosis, Hypotelorism, Developmental cat... OMIM:616395
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Open mouth OMIM:616816
Hypertelorism, Microtia, Facial Clefting Syndrome
Hypertelorism, Broad nasal tip, Micrognathia, Cleft upper lip, Facial cleft, Cleft palate, Bifid ... OMIM:239800
Stromme Syndrome
Sclerocornea, Micrognathia, Microcornea, Deeply set eye, Agenesis of corpus callosum, Iris colobo... OMIM:243605
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Anteverted nares, Episodic tachypnea, Wide nasal... OMIM:608629
Halperin-Birk Syndrome
Micrognathia, Aspiration, Developmental cataract, Colpocephaly, Umbilical hernia, High palate, Th... OMIM:618651
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Coloboma, Agenesis of corpus callosum OMIM:274270
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Brachycephaly, Microcornea, High palate, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
Cranioectodermal Dysplasia
Frontal bossing, Anteverted nares, Abnormal dental enamel morphology, Craniosynostosis, Abnormali... ORPHA:1515
Ritscher-Schinzel Syndrome 1
Anal atresia, Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micr... OMIM:220210
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Wide nasal bridge, Hypotelorism, Long philtrum, Trigonocep... OMIM:190440
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalu... ORPHA:370959
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation, Tented upper lip vermilion, Brachycephaly, Long philtrum OMIM:619972
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Abnormal den... ORPHA:96264
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Micrognathia, Deeply set eye, Holoprosencephaly, Hydranencephaly, Intrauterine growth retardation ORPHA:2570
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Lens coloboma, Lateral ventricle dilatation, Umbilical herni... OMIM:618914
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Depressed nasal bridge, Wide nasal bridge, Hypotelorism, High palate, Ventriculomegaly OMIM:615760
Paganini-Miozzo Syndrome
Mandibular prognathia, Downturned corners of mouth, Deeply set eye, Lateral ventricle dilatation,... OMIM:301025
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Thin upper lip vermilion, Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridg... ORPHA:488635
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Brachycephaly, Wide nasal bridge, ... OMIM:619995
Trisomy 18P
Underdeveloped nasal alae, Micrognathia, High, narrow palate, Pyloric stenosis, Wide nasal bridge... ORPHA:1715
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Prominent nasal bridge, Hypertelorism, Hydrocephalus, ... OMIM:614424
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Lateral ventricle dilatation, Respiratory insufficiency OMIM:617668
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Edema OMIM:189800
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos ORPHA:77299
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Lack of facial subcutaneous fat, Progeroid facia... OMIM:614098
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Hydrocephalus ORPHA:141333
Lymphatic Malformation 2
Lymphedema OMIM:611944
Temtamy Syndrome
Frontal bossing, Dental crowding, Micrognathia, Hypertelorism, Lens luxation, Ectopia lentis, Hyp... OMIM:218340
Cofs Syndrome
Death in infancy, Cataract, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Everted l... ORPHA:1466
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypertelorism, Cleft upper lip, Wide nasal bridge, Hypotelorism, Downturned corners of mouth, Sho... OMIM:613192
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Cyanosis, Anteverted nares, Micrognathia, Hypertelori... OMIM:619879
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Cloverleaf skull, Cataract, Micrognathia, Hypertelorism, Wide nasal bridge, Down... ORPHA:93267
Acrofacial Dysostosis, Catania Type
Microretrognathia, Abnormality of the dentition, Carious teeth, Facial cleft, Abnormal palate mor... ORPHA:1786
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Anteverted nares, Micrognathia, Hypertelorism, Pierre-Robin sequence, W... OMIM:611209
Craniotelencephalic Dysplasia
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, M... ORPHA:1528
Pierpont Syndrome
Wide nose, Broad nasal tip, Hypertelorism, Long upper lip, Brachycephaly, Microcornea, Deeply set... OMIM:602342
Li-Ghorbani-Weisz-Hubshman Syndrome
Depressed nasal bridge, Prominent nasal bridge, Hypotelorism, Downturned corners of mouth, Thick ... OMIM:618974
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly OMIM:619033
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Frontal bossing, Dental crowding, Partial agenesis of the corpus callosum, Brachycephaly, Plagioc... OMIM:617296
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Frontal bossing, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal al... ORPHA:228390
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Iris coloboma, Hypertelorism, Cleft upper lip, Wide n... OMIM:243310
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Flat occiput, Abnormal zygomatic bone morphology, Bra... ORPHA:2511
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Glutathionuria
Asthma, Agenesis of corpus callosum, Hypotelorism OMIM:231950
Intellectual Developmental Disorder, Autosomal Recessive 5
Prominent nasal bridge, Underdeveloped nasal alae, Prominent nose, Hypertelorism, Wide nasal brid... OMIM:611091
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Frontal bossing, Prominent nasal tip, Thin upper lip vermilion, Depressed ... ORPHA:439822
D-2-Hydroxyglutaric Aciduria 1
Frontal bossing, Apnea, Micrognathia, Subependymal cysts, Lateral ventricle dilatation, Inspirato... OMIM:600721
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Smooth philtrum, Ventriculomegaly, Cataract, Depressed nasal bridge, Choana... OMIM:300968
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Hypertelorism, Thic... OMIM:620075
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Cutis marmorata, Broad nasal tip, Dental malocclusion, Hypotelorism, Wi... OMIM:619719
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Wide nose, Anteverted nares, Dorsocervical fat pad, Micrognathia, Hypop... ORPHA:391408
Tetrasomy 5P
Respiratory distress, Cyanosis, Anteverted nares, Micrognathia, Hypertelorism, Wide anterior font... ORPHA:3309
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation, Tongue fasciculations, Respiratory insufficiency, Intercostal muscl... OMIM:607596
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Thin upper lip vermilion, Pyloric stenosis, Wide anterior fontanel, Submucous cl... ORPHA:457279
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Micrognathia, Recurrent upper respiratory tract infections, Lateral ven... ORPHA:3078
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly, Cataract ORPHA:588
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hypotelorism, Shallow orbits,... OMIM:601812
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Vitamin K Antagonist Embryofetopathy
Cataract, Anteverted nares, Choanal atresia, Depressed nasal bridge, Hypertelorism, Hydrocephalus... ORPHA:1914
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Partial agenesis of the corpus callosum, La... OMIM:619517
Supernumerary Nostril
Choanal atresia, Facial cleft, Developmental cataract, Microcornea, Supernumerary naris, Abnormal... ORPHA:141096
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Wide nasal bridge, Hypotelorism ORPHA:3366
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Respiratory insufficiency due to muscle weakness, Hydrocephalus... OMIM:615249
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge OMIM:614019
Fraser Syndrome 1
Cleft ala nasi, Anophthalmia, Dental crowding, Choanal stenosis, Abnormality of the anus, Encepha... OMIM:219000
Hadziselimovic Syndrome
Anteverted nares, Prominent nasal bridge, Thick lower lip vermilion, Hypotelorism, High palate, U... OMIM:612946
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormality of the philtrum, Abnormality of the dentition, Hypotelorism, Deepl... ORPHA:276422
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Prominent nose, Brachycephaly, Lateral vent... OMIM:619244
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Hartsfield Syndrome
Wide nose, Median cleft lip, Craniosynostosis, Alobar holoprosencephaly, Hypertelorism, Cleft upp... OMIM:615465
Amyotrophy, Hereditary Neuralgic
Depressed nasal bridge, Narrow mouth, Cleft palate, Hypotelorism, Deeply set eye, Long nasal bridge OMIM:162100
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Convex nasal ridge, Hydrocephalus, Cleft palate, P... ORPHA:85284
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip... ORPHA:411986
Vici Syndrome
Death in infancy, Cataract, Hypertelorism, Hypotelorism, Depressed nasal tip, High palate, Agenes... ORPHA:1493
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Depressed nasal bridge, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... OMIM:619833
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Coach Syndrome 2
Hydrocephalus, Coloboma, Apneic episodes in infancy, Chorioretinal coloboma, Agenesis of corpus c... OMIM:619111
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Smooth philtrum, Depressed nasal bridge, Cutis marmorata, Hypertelorism, Hydrocephalus, Microphth... OMIM:602501
Isolated Exencephaly
Depressed nasal bridge, Anterior pituitary hypoplasia, Abnormal facial skeleton morphology, Abnor... ORPHA:563612
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Frontal bossing, Wide nose, Ventriculomegaly, Corneal opacity, Cataract, St... ORPHA:1052
Intellectual Developmental Disorder, Autosomal Dominant 7
Thin upper lip vermilion, Micrognathia, Bulbous nose, Thick lower lip vermilion, Hypotelorism, De... OMIM:614104
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Flat occiput, Anteriorly placed anus, Choanal stenosis, High palate, Agenes... OMIM:123790
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Frontal bossing, Lip pit, Hypertelorism, Brachycephaly, Facial cleft, Hypo... ORPHA:1236
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Partial agenesis of the corpus callosum, Lateral ventricle dilatat... ORPHA:79243
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Aicardi Syndrome
Prominence of the premaxilla, Cataract, Anteverted nares, Spina bifida, Hiatus hernia, Cleft uppe... OMIM:304050
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Thick nasal alae, Cleft soft palate, Prominent nose, Bulbous nose, Choroid plexus cyst, Depressed... ORPHA:293725
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Prominent superficial blood vessels, Cataract, Narrow nasal ridge, Hypertelorism... OMIM:219150
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Wide nose, Hypertelorism, Wide nasal bridge, Prominent o... ORPHA:89844
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... ORPHA:329178
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Smooth philtrum, Prominent nasal bridge, Craniosynostosis, Abnormal occipital ... ORPHA:468631
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Te... OMIM:614669
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Frontal bossing, Ventriculomegaly, Occipital encephalocele, Depressed nasal bridge, Apnea, Chroni... ORPHA:397715
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Monosomy 13Q14
Cataract, Prominent nasal bridge, Micrognathia, Hypertelorism, Wide nasal bridge, Holoprosencepha... ORPHA:1587
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, C... ORPHA:1555
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Trichothiodystrophy
High, narrow palate, Partial agenesis of the corpus callosum, Hypotelorism, Microcornea, Conjunct... ORPHA:33364
Mosaic Trisomy 1
Microretrognathia, Frontal bossing, Depressed nasal bridge, Thick lower lip vermilion, Wide nasal... ORPHA:1692
Short Stature-Micrognathia Syndrome
Cataract, Micrognathia, Scaphocephaly, Cleft palate, Hypotelorism, Astigmatism, High palate, Intr... OMIM:617164
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Narrow mouth, Wide nasal bridge,... ORPHA:1449
Smith-Lemli-Opitz Syndrome
Sclerocornea, Micrognathia, Biparietal narrowing, Holoprosencephaly, Advanced eruption of teeth, ... ORPHA:818
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Lobar holoprosencephaly, Prominent occiput, Hypotelorism, Hypoplasia of t... OMIM:618500
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Brachycephaly, Wide mouth, Lateral ventricle dilatation, Thick vermilion b... ORPHA:85290
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Cataract, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Microphthal... OMIM:253800
Temtamy Syndrome
Convex nasal ridge, Micrognathia, Hypertelorism, Thick lower lip vermilion, Chorioretinal colobom... ORPHA:1777
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Smooth philtrum, Exaggerated cupid's bow, Prominent nasal bridge, Micrognathia, Hypertelorism, Wi... OMIM:618659
Meckel Syndrome
Encephalocele, Anophthalmia, Cataract, Aplasia/Hypoplasia of the tongue, Sclerocornea, Micrognath... ORPHA:564
Pallister-Hall Syndrome
Natal tooth, Anteverted nares, Choanal atresia, Depressed nasal bridge, Decreased response to gro... OMIM:146510
Cach Syndrome
Intrauterine growth retardation, Lateral ventricle dilatation, Cataract, T2 hypointense thalamus ORPHA:135
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Cataract, Prominent nasal bridge, Prominent nose, Carious teeth, Micro... OMIM:214150
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Coloboma, Pul... OMIM:166750
15Q24 Microdeletion Syndrome
Smooth philtrum, Depressed nasal bridge, Prominent nasal bridge, Decreased response to growth hor... ORPHA:94065
Otodental Syndrome
Lens coloboma, Microcornea, Periodontitis, Abnormal dental pulp morphology, Iris coloboma, Anteve... ORPHA:2791
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, Hypotelorism, Deeply set eye, Short philtrum, Anteverted nares, Depressed nasal bri... OMIM:618454
Intellectual Developmental Disorder, Autosomal Dominant 56
Thin upper lip vermilion, Lateral ventricle dilatation, High palate, Long philtrum, Open mouth OMIM:617854
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Hypotelorism, Microcornea, Deeply set eye, Broad columella, ... ORPHA:2710
Holoprosencephaly 4
Median cleft lip and palate, Depressed nasal bridge, Median cleft lip, Absent nasal septal cartil... OMIM:142946
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Multiple Pterygium-Malignant Hyperthermia Syndrome
Exaggerated cupid's bow, Prominent nasal bridge, Dyspnea, Narrow mouth, Abnormal mandible morphol... ORPHA:2215
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Frontal bossing, Exaggerated cupid's bow, Narrow nasal ridge, Micrognathia... OMIM:619512
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Broad nasal t... OMIM:615583
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Hypotelorism, Lobulated tongue, Agenesis of corpus callosu... OMIM:249000
Steinfeld Syndrome
Bifid uvula, Retinal coloboma, Holoprosencephaly, Aplasia of the nose, Microphthalmia, Iris colob... OMIM:184705
Baller-Gerold Syndrome
Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Hypertelorism, Malabs... ORPHA:1225
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism,... ORPHA:163649
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Anal atresia, Corneal opacity, Optic nerve hypoplasia,... OMIM:236670
Harrod Syndrome
Cataract, Long nose, Dental malocclusion, Hypotelorism, High palate, Narrow mouth, Intrauterine g... ORPHA:2115
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Hypertelorism, Celiac disease, Dysplastic corpus callosum, Bulbous nose, Asthma, Retrognathia, De... ORPHA:544488
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Pfeiffer Syndrome Type 2
Respiratory distress, Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Intestinal malro... ORPHA:93259
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Depressed nasal bridge, Cleft upper lip, Deep philtrum, Flared nos... OMIM:206920
Craniosynostosis 2
Frontal bossing, Bicoronal synostosis, Turricephaly, Cleft soft palate, Craniosynostosis, Supernu... OMIM:604757
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Flat occiput, Optic nerve hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Plag... ORPHA:300570
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cleft palate, Microc... OMIM:610125
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Frontal bossing, Anteverted nares, Long nose, Bulbous nose, Orofacial cleft, H... ORPHA:261211
Cog5-Cdg
Prominent nose, Wide nasal bridge, Lateral ventricle dilatation, High palate, Intrauterine growth... ORPHA:263487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Frontal bossing, Ventriculomegaly, Cataract, Remnants of the hyaloid vascular syst... OMIM:614643
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Brachycephaly, Hypotelorism, Plagiocephaly, Holoprosencephaly ORPHA:2163
Coffin-Siris Syndrome 11
Frontal bossing, Depressed nasal bridge, Cleft soft palate, Hypertelorism, Esophageal atresia, Bu... OMIM:618779
Schilbach-Rott Syndrome
Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, Hypotelorism, Narrow mouth,... OMIM:164220
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... OMIM:619148
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hypertelorism, Hydroc... OMIM:269860
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth ORPHA:2901
Weyers Acrofacial Dysostosis
Solitary median maxillary central incisor, Conical tooth, Hypotelorism OMIM:193530
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Micrognathia, Hypotelorism, Downturned corners of mouth, Oligodontia... OMIM:616817
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Smooth philtrum, Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hypertelorism,... OMIM:616975
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Death in infancy, Micrognathia, Hydrocephalus, Depressed nasal ridge, Wide mouth... ORPHA:163966
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus ... OMIM:207950
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Underdeveloped nasal alae, Micrognathia, Hypertelorism, Hypotelorism, Wide mouth, High palate, Sh... OMIM:300986
Weyers Ulnar Ray/Oligodactyly Syndrome
Cleft upper lip, Micrognathia, Cleft palate, Hypotelorism, High palate, Solitary median maxillary... OMIM:602418
Frontofacionasal Dysplasia
Cataract, Underdeveloped nasal alae, Hypertelorism, Cleft upper lip, Brachycephaly, Cranium bifid... OMIM:229400
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Mandibular prognathia, Frontal bossing, Thin upper lip vermilion, Prominent nose, Long nose, Hypo... OMIM:300486
Isolated Arrhinia
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertel... ORPHA:1134
Ring Chromosome 21 Syndrome
Cutaneous photosensitivity, Holoprosencephaly ORPHA:1445
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Hypotelorism OMIM:616281
Galloway-Mowat Syndrome
Hypertelorism, Aqueductal stenosis, Micrognathia, Hiatus hernia, Abnormality of the dentition, Hy... ORPHA:2065
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Thin upper lip vermilion, Hypertelorism, Wide nasal bridge, Lateral ven... ORPHA:572798
Cerebrooculofacioskeletal Syndrome 2
Cataract, Prominent nose, Micrognathia, Developmental cataract, Deeply set eye, Death in childhoo... OMIM:610756
Cockayne Syndrome Type 2
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Progeroid facial appearan... ORPHA:90322
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal calvaria morphology, Hypotelorism ORPHA:1952
Frontorhiny
Encephalocele, Cataract, Hypertelorism, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, C... ORPHA:391474
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Wide nasal bridge OMIM:614870
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Anteverted nares, Macrodontia, Hypertelorism, Plagiocephaly, Downturned corners of mouth, Colpoce... OMIM:618731
Abruzzo-Erickson Syndrome
Cleft palate, Microcornea, Coloboma, Chorioretinal coloboma, Malar flattening, Iris coloboma, Abn... ORPHA:921
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Smooth philtrum, Carious teeth, Brachycephaly, De... OMIM:619229
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Hypertelorism, Bulbous nose, Wide nasal bridge, Deeply set ey... ORPHA:261304
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Wide nasal bridge, Coloboma, Do... OMIM:167730
Sandestig-Stefanova Syndrome
Wide nasal bridge, Orofacial cleft, Developmental cataract, Respiratory failure, High palate, Tri... OMIM:618804
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Downturned corners of mouth, Frontal bossing, Hypotelorism OMIM:618718
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Jejunal atresia, Acrania, Ileal atresia, Micrognathia, Hypertelorism, ... OMIM:618820
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenu... ORPHA:2919
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Hypertelorism, High, narrow palate, Hydrocephalus, Lateral ventricle dila... OMIM:619575
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Depressed... OMIM:616331
Orofaciodigital Syndrome Xix
Frontal bossing, Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nas... OMIM:620107
Vici Syndrome
Wide nose, Cataract, Depressed nasal bridge, Median cleft lip, Everted upper lip vermilion, Micro... OMIM:242840
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Agenes... OMIM:200990
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal atresia, Hydrocephalus,... ORPHA:3412
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Frontal bossing, Cataract, Hypertelorism, Cleft lip, Bulbous nose, Deep philtr... OMIM:618571
Noonan Syndrome 14
Prominent nasal bridge, Hypertelorism, High, narrow palate, Wide mouth, Lateral ventricle dilatat... OMIM:619745
Branchio-Oculo-Facial Syndrome
Cataract, Broad nasal tip, Deep philtrum, Non-midline cleft lip, Wide nasal bridge, Orofacial cle... ORPHA:1297
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Facial cleft, Abnormal oral frenulum morphology, Sol... ORPHA:952
Trichothiodystrophy 8, Nonphotosensitive
Thin upper lip vermilion, Prominent nose, Hypotelorism, Long philtrum, Retrognathia OMIM:619691
Joubert Syndrome 16
Encephalocele, Coloboma, Dandy-Walker malformation, Hypertelorism OMIM:614465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus, Ventriculomegaly OMIM:614830
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea, Coloboma OMIM:616490
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Cataract, Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Bifid u... ORPHA:2250
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Cat-Eye Syndrome
Hypertelorism, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Anal atresia, Intrauterine ... ORPHA:195
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Frontal bossing, Narrow nasal bridge, Micrognathia, Hypotelorism, Abnormal... ORPHA:3082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Developmental cataract, Lateral ventricle dilatation, Posterior ... OMIM:613154
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma, Dand... ORPHA:138
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Pro... OMIM:619793
Linear Skin Defects With Multiple Congenital Anomalies 2
Hypertelorism, Pulmonary arterial hypertension, Long philtrum, Microphthalmia, Short nose, Agenes... OMIM:300887
Lig4 Syndrome
Prominent nose, Asthma, Brachycephaly, Wide nasal bridge, Hypotelorism, Telangiectasia, Astigmati... OMIM:606593
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Micrognathia, Wide mouth, Deeply set eye, Widely spaced teeth OMIM:300934
Koolen-De Vries Syndrome
Cataract, Prominent nasal bridge, Cleft upper lip, Pyloric stenosis, Bulbous nose, Cleft palate, ... OMIM:610443
Mosaic Variegated Aneuploidy Syndrome 2
Frontal bossing, Depressed nasal bridge, Decreased response to growth hormone stimulation test, C... OMIM:614114
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... ORPHA:2334
Congenital Toxoplasmosis
Hydrocephalus, Jaundice, Microphthalmia, Ventriculomegaly, Intrauterine growth retardation ORPHA:858
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cataract, Micrognathia, Hydrocephal... ORPHA:3301
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Cleft palate, Restrictive ventilatory defect, Re... OMIM:614399
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Bartsocas-Papas Syndrome 1
Anal stenosis, Underdeveloped nasal alae, Hypoplasia of the maxilla, Micrognathia, Hypertelorism,... OMIM:263650
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, H... OMIM:619680
Giacheti Syndrome
Hypotelorism OMIM:612917
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Anteverted nares, Tented upper lip vermilion, Hypertelorism, Recurrent pneumonia, Cleft... OMIM:616449
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Agenesis of corpus callosum, Ven... ORPHA:99742
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Respiratory distress, Flat occiput, Anteverted nares, Tented upper lip vermi... OMIM:619383
Chromosome 15Q11.2 Deletion Syndrome
Smooth philtrum, Irregular dentition, Micrognathia, Hypertelorism, Bulbous nose, Asthma, Cleft pa... OMIM:615656
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Grayish enamel,... ORPHA:2980
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Wide nose, Anophthalmia, Corneal opacity, Abnormal dental enamel morphology... ORPHA:2556
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Choriore... OMIM:234100
Neurooculocardiogenitourinary Syndrome
Prominent nasal bridge, Hypertelorism, Downturned corners of mouth, Coloboma, Peters anomaly, Mic... OMIM:618652
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Hypertelorism, Cleft palate, Abnormality ... ORPHA:1135
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Frontal bossing, Cataract, Anteverted nares, Depressed nasal bridge, Hypot... OMIM:181270
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Neonatal respiratory distress, High palate, Hypotelorism OMIM:619053
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia... ORPHA:1473
Iniencephaly
Encephalocele, Spina bifida, Abnormal occipital bone morphology, Hydrocephalus, Myelomeningocele,... ORPHA:63259
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Ventriculomegaly With Defects Of The Radius And Kidney
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly OMIM:602200
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Stevenson-Carey Syndrome
Anteverted nares, Central hypoventilation, Underdeveloped nasal alae, Pierre-Robin sequence, Brac... OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Microphthalmia, Hydrocephalus, Developmental cataract OMIM:613155
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Posterio... OMIM:615873
Smith-Lemli-Opitz Syndrome
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Holoprosencephaly, Bifid ... OMIM:270400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Cataract, Retinal coloboma OMIM:601794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Depressed nasal bridge, Hypertelorism, Bulbous nose, Brachycephaly, Plagiocephal... OMIM:616789
1Q21.1 Microdeletion Syndrome
Frontal bossing, Cataract, Bulbous nose, Hydrocephalus, Wide nasal bridge, Deeply set eye, Ankylo... ORPHA:250989
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Malar prominence, Micrognathia, Microcornea, Microphthalmia, Intrauterine growth retard... ORPHA:48431
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Microcornea, Widely-spaced... OMIM:601349
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Underdeveloped nasal alae, Micr... ORPHA:264200
Braddock Syndrome
Neonatal respiratory distress, Micrognathia, Hypotelorism, Pulmonary arterial hypertension, Intra... ORPHA:52047
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Robinow Syndrome, Autosomal Recessive 2
Frontal bossing, Anteverted nares, Cleft soft palate, Micrognathia, Broad nasal tip, Hyperteloris... OMIM:618529
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Hypertelor... ORPHA:93260
Gabriele-De Vries Syndrome
Broad nasal tip, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Pierre-Ro... OMIM:617557
Short Stature, Microcephaly, And Endocrine Dysfunction
Cataract, Prominent nasal bridge, Broad nasal tip, Long nose, Hypotelorism, Deeply set eye, Intra... OMIM:616541
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Hamartoma of tongue, Micrognathia, Cleft... OMIM:615948
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Cataract, Peters anomaly, Cleft upper lip, Hydrocephalus, Cleft ... OMIM:613150
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Cataract, Prominent nasal bridge, Intestinal malrotation, Ectopia lent... ORPHA:2712
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Cataract, Corneal opacity, Hypertelorism, Hypoplasia of the maxilla, Recurrent upper r... ORPHA:2399
Congenital Disorder Of Glycosylation, Type Iif
Flat occiput, Hypotelorism, Deeply set eye, Short philtrum, Subcutaneous hemorrhage OMIM:603585
Curry-Jones Syndrome
Intestinal malrotation, Craniosynostosis, Hypertelorism, Optic disc coloboma, Microphthalmia, Age... ORPHA:1553
Microphthalmia, Syndromic 3
Frontal bossing, Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Anterior pi... OMIM:206900
Pseudo-Torch Syndrome 2
Ventriculomegaly, Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventric... OMIM:617397
Joubert Syndrome 2
Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Central apnea, Depressed nasal ... OMIM:608091
Cataract 47
Microcornea, Cataract OMIM:612018
White Sponge Nevus 2
Edema OMIM:615785
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Choanal atresia, Dental crowding, Cl... OMIM:301044
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract OMIM:613763
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Gombo Syndrome
Microphthalmia OMIM:233270
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia OMIM:254120
Marden-Walker Syndrome
Anteverted nares, Micrognathia, Hypertelorism, High, narrow palate, Pyloric stenosis, Wide anteri... OMIM:248700
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cleft upper lip, Anosmia, Cleft palate, Hypotelorism, Hyposmia OMIM:244200
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Mi... OMIM:217980
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Depressed nasal bridge, Hypertelorism, Brachycephaly, Coloboma, Microphthalmia OMIM:612379
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Pontocerebellar Hypoplasia, Type 11
Coloboma, Bulbous nose, Agenesis of corpus callosum, Anal atresia OMIM:617695
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Hydrocephalus, Colpocephaly, Death in childhood, Intrauterine growth retardatio... OMIM:616034
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Pierre-R... OMIM:300868
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Neonatal respiratory distress, Micrognathia, Hypotelorism, Deeply set eye, High palate, Narrow mo... OMIM:602471
Lissencephaly 8
Microphthalmia, Occipital encephalocele, Cataract, Ventriculomegaly OMIM:617255
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Deeply set eye, Peters anomaly, Microphthalm... OMIM:614526
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Brachycephaly, Hypotelorism, Downturned corners of mouth, Deeply set eye, Parietal ... OMIM:264090
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge, Hypertelorism, Mic... OMIM:157900
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism OMIM:619091
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Macular ... OMIM:615219
Slc35A2-Cdg
Intrauterine growth retardation, Lateral ventricle dilatation, Dandy-Walker malformation, Cranios... ORPHA:356961
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Depressed nasal bridge, Hypertelorism, Bulbous nose, Bilateral microphthal... ORPHA:369891
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Corneal dystrophy, Hypoplasia of the maxilla, High, narrow p... ORPHA:1101
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Anteverted nares, Hypertelorism, Depressed nasal ridge, Gingival overgrowth, Coloboma, Deeply set... ORPHA:464288
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced incisors OMIM:300915
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Oligodontia, Prominence of the zygomatic bone, Exaggerated cupid's bo... ORPHA:364577
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Cl... ORPHA:2257
Saethre-Chotzen Syndrome
Depressed nasal bridge, Prominent nasal bridge, Craniosynostosis, Hypertelorism, Hypoplasia of th... ORPHA:794
Cockayne Syndrome Type 1
Mandibular prognathia, Anophthalmia, Cataract, Delayed eruption of primary teeth, Progeroid facia... ORPHA:90321
Weaver Syndrome
Mandibular prognathia, Flat occiput, Depressed nasal bridge, Hypertelorism, Lateral ventricle dil... OMIM:277590
Ring Chromosome 10 Syndrome
Frontal bossing, Aganglionic megacolon, Micrognathia, Hypertelorism, Wide nasal bridge, Thin verm... ORPHA:1438
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Cleft palate ORPHA:66637
Fryns Syndrome
Tented upper lip vermilion, Micrognathia, High palate, Agenesis of corpus callosum, Dandy-Walker ... ORPHA:2059
Degcags Syndrome
Micrognathia, Prominent nose, Hypotelorism, Premature graying of hair, High palate, Agenesis of c... OMIM:619488
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hypertelorism, Micrognathia, Respiratory insufficiency due to muscle weakne... ORPHA:1143
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Microphthalmia, Partial agenesis of the corpus callosum OMIM:615771
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Frontal bossing, Cataract, Micrognathia, Microcornea, Coloboma, Iris transillumination defect, Sh... OMIM:617306
Bohring-Opitz Syndrome
Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Apnea, Micrognathia, Hypertelorism, C... ORPHA:97297
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Micrognathia, Prominent nose, Brachycephaly, Hypotelorism, Deeply set eye,... OMIM:612474
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Anal atresia, Low hanging columella OMIM:619318
Linear Skin Defects With Multiple Congenital Anomalies 3
Sclerocornea, Delayed eruption of primary teeth, Lateral ventricle dilatation, Microphthalmia, Ag... OMIM:300952
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Flat occiput, Micrognathia, High, narrow palate, Dyspnea, Brachycephaly, Mi... ORPHA:2707
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Microcornea, ... OMIM:257850
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mmep Syndrome
Mandibular prognathia, Microphthalmia, Median cleft lip, Orofacial cleft ORPHA:3434
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Flat occiput, Depressed nasal bridge, Hypertelorism, Micrognathia, High, na... OMIM:608799
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Micrognathia, Hypotelorism, High palate, Abnormality of globe size, Increased circulating prolact... ORPHA:502423
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Respiratory insufficiency ORPHA:238329
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Cataract, Anteverted nares, Micrognathia, Astigmatism, Widely spaced teeth, Microdonti... OMIM:619694
Focal Dermal Hypoplasia
Cleft ala nasi, Anophthalmia, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Spina ... OMIM:305600
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation, Proptosis, De... OMIM:612301
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Intestinal malrotation, Micro... ORPHA:404440
2Q31.1 Microdeletion Syndrome
Micrognathia, Hypertelorism, Bulbous nose, Optic disc coloboma, Deep philtrum, Cleft palate, Down... ORPHA:251014
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth h... OMIM:241410
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Frontal bossing, Neonatal respiratory distress, Depressed nasal bridge, Short lingual frenulum, W... OMIM:619479
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Thin upper lip vermilion, Flat occiput, Depressed nasal bridge, Anteverted... OMIM:152950
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, Depressed nasal bridge, Exaggerated cupid's bow, Hypertelorism, Cleft lip, Bulbo... OMIM:620098
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Apert Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Agenesis of corpus callosum, Bifid uvula, Clove... ORPHA:87
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Pete... OMIM:608013
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Flat occiput, Dental crowding, Micrognathia, Coloboma, Deeply set eye, High palate, Short philtru... ORPHA:251028
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, U... OMIM:619426
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Frontal bossing, Hydrocephalus, Depressed nasal ridge, Microphthalmia, Short nose, Intrauterine g... OMIM:300863
Pallister-Hall Syndrome
Depressed nasal ridge, Gonadotropin deficiency, Holoprosencephaly, Bifid uvula, Microretrognathia... ORPHA:672
Coffin-Siris Syndrome 1
Conical tooth, Partial agenesis of the corpus callosum, Brachycephaly, Hypotelorism, High palate,... OMIM:135900
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Respiratory failure, Death in childhood OMIM:619847
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia, Dandy-Walke... OMIM:611134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Encephalocele, Anal atresia, Hamartoma of tongue, Prominent nose,... OMIM:616300
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Thin upper lip vermilion, Depressed nasal bridge, Craniosynostosis, Micrognathia, Broad nasal tip... OMIM:309590
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance OMIM:619466
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, Hydrocephalu... ORPHA:2356
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Fraser Syndrome
Cleft ala nasi, Anophthalmia, Dental crowding, Orofacial cleft, High palate, Encephalocele, Death... ORPHA:2052
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Neonatal... OMIM:619751
Chromosome 1P36 Deletion Syndrome, Distal
Depressed nasal ridge, Brachycephaly, Orofacial cleft, Deeply set eye, High palate, Agenesis of c... OMIM:607872
Curry-Jones Syndrome
Ventriculomegaly, Occipital meningocele, Intestinal pseudo-obstruction, Anal stenosis, Intestinal... OMIM:601707
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia, Apnea, Hypertelorism, Dyspnea, Single naris... OMIM:615636
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Heart And Brain Malformation Syndrome
Depressed nasal bridge, Anteverted nares, Hypertelorism, High, narrow palate, Wide anterior fonta... OMIM:616920
Warburg Micro Syndrome 3
Cataract, Micrognathia, Brachycephaly, Narrow palate, Developmental cataract, Microcornea, Downtu... OMIM:614222
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Cyanosis, Ventriculomegaly ORPHA:488627
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Combined Oxidative Phosphorylation Defect Type 39
Intrauterine growth retardation, Lateral ventricle dilatation, Open mouth ORPHA:565624
Fanconi Anemia, Complementation Group D2
Hypertelorism, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Hypotelorism, Microp... OMIM:227646
Odontochondrodysplasia
Delayed eruption of teeth, Frontal bossing, Death in infancy, Respiratory distress, Depressed nas... ORPHA:166272
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, Cataract, Micrognathia, High, narrow pa... ORPHA:2780
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Rere-Related Neurodevelopmental Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Astigmatism, Chorioretinal colo... ORPHA:494344
Bartsocas-Papas Syndrome 2
Corneal opacity, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital ptery... OMIM:619339
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Desmosterolosis
Frontal bossing, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Abnormality of the... ORPHA:35107
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Cataract, Choanal atresia, Hypertelorism, Cleft lip, Dental malocclus... OMIM:603457
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Ventriculomegaly OMIM:617977
3Mc Syndrome 3
Corneal opacity, Cleft upper lip, Hypertelorism, Facial cleft, Cleft palate OMIM:248340
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cutaneous photosensitivity, Cataract OMIM:278780
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Frontal bossing, Odontogenic keratocysts of the jaw, Cataract, Spina bifid... OMIM:109400
Joubert Syndrome 22
Microphthalmia, Coloboma, Intrauterine growth retardation OMIM:615665
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Cataract, Optic nerve hypoplasia OMIM:615181
Isolated Sedoheptulokinase Deficiency
Neonatal asphyxia, Steatorrhea, Hypotelorism, Shallow orbits, Abnormality of globe location, Vent... ORPHA:440713
Microphthalmia, Syndromic 2
Anophthalmia, Microcornea, Oligodontia, Fused teeth, Bifid uvula, Iris coloboma, Dandy-Walker mal... OMIM:300166
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Meckel Syndrome, Type 2
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia, Da... OMIM:603194
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Hypertelorism, Long nose, Partial agenesis of the corpus callosum, Bulbous nose, Colpocephaly, Hi... OMIM:620113
Seckel Syndrome 7
Hypotelorism, Intrauterine growth retardation, Prominent nose OMIM:614851
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cleft palate, Hypote... OMIM:615849
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, High palate, Exaggerated median tongue fur... OMIM:608670
Neu-Laxova Syndrome
Ventriculomegaly, Cataract, Abnormality of the philtrum, Spina bifida, Micrognathia, Hyperteloris... ORPHA:2671
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, Hypertelorism, Micrognathia, Wide nasal bridge, Hypoplastic n... ORPHA:3304
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long philtrum, Mic... OMIM:615877
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Coloboma,... ORPHA:324737
Microphthalmia With Limb Anomalies
Frontal bossing, Death in infancy, Depressed nasal bridge, Hypoplasia of the premaxilla, Macrodon... ORPHA:1106
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Downturned corners of mouth, Deeply set eye, Short philtrum, Emphysema... ORPHA:500150
Coffin-Siris Syndrome 12
Frontal bossing, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Micrognathia, ... OMIM:619325
Histiocytoid Cardiomyopathy
Cyanosis, Corneal opacity, Hydrocephalus, Tachypnea, Cleft palate, Cough, Microphthalmia, Megaloc... ORPHA:137675
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Optic nerve hypoplasia ORPHA:250972
Combined Oxidative Phosphorylation Deficiency 55
Depressed nasal bridge, Anteverted nares, Hypotelorism, High palate, Open mouth, Ventriculomegaly OMIM:619743
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Neu-Laxova Syndrome 1
Micrognathia, Swollen lip, Depressed nasal ridge, Neonatal death, Pterygium, Agenesis of corpus c... OMIM:256520
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Micrognathia, Microcornea, High palate, Microdontia, Anteverted nares, Depr... ORPHA:536467
Microcephaly-Micromelia Syndrome
Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Cleft palate, Neonatal death, Nar... OMIM:251230
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Frontal bossing, Central apnea, Depressed nasal bridge, Wide anterior fonta... OMIM:616482
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Gonadotropin d... OMIM:214800
16Q24.3 Microdeletion Syndrome
Smooth philtrum, Frontal bossing, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Wide mo... ORPHA:261250
8Q21.11 Microdeletion Syndrome
Wide nose, Cataract, Corneal opacity, Exaggerated cupid's bow, Sclerocornea, Underdeveloped nasal... ORPHA:284160
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Coloboma, Shallo... ORPHA:352665
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Anteriorly placed anus, ... OMIM:612289
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
3Q29 Microduplication Syndrome
Cataract, Craniosynostosis, Sclerocornea, Abnormality of the dentition, Deep philtrum, Wide nasal... ORPHA:251038
Mend Syndrome
Cataract, Prominent nasal bridge, Micrognathia, Hypertelorism, Wide anterior fontanel, Hydrocepha... ORPHA:401973
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Microdontia, Non-midline cleft lip, Cle... ORPHA:1915
Micro Syndrome
Cataract, Anteverted nares, Micrognathia, Wide nasal bridge, Microcornea, Retinal coloboma, High ... ORPHA:2510
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Hypertelorism, Diastema, Bulbous nose, Downturned corners of mouth, Col... ORPHA:329224
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Lymphedema, Primary, With Myelodysplasia
Hypotelorism OMIM:614038
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Recurrent upper respiratory tract infections, Tachypnea, Respirat... OMIM:263000
Joubert Syndrome 37
Frontal bossing, Wide nose, Anteverted nares, Hypertelorism, Wide nasal bridge, Deeply set eye, H... OMIM:619185
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Anteverted nares, Micrognathia, Prominent nose, Partial agenesis of the corpus ... OMIM:210710
Microphthalmia, Syndromic 6
Anophthalmia, Sclerocornea, Micrognathia, Microglossia, Brachycephaly, Cleft palate, Plagiocephal... OMIM:607932
Pelvis-Shoulder Dysplasia
Spina bifida, Micrognathia, Hydrocephalus, Bilateral microphthalmos, Cleft palate, Microcornea, R... ORPHA:2839
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Depressed nasal bridge, High palate, Inspiratory stridor,... OMIM:604377
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve... ORPHA:95494
Retinal Dystrophy With Leukodystrophy
Cleft palate, Hypotelorism OMIM:618863
Developmental And Epileptic Encephalopathy 1
Plagiocephaly, Microphthalmia, Ventriculomegaly, Dyspnea OMIM:308350
Kniest Dysplasia
Respiratory distress, Cataract, Depressed nasal bridge, Cleft palate, Proptosis, Umbilical hernia... OMIM:156550
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Flat occiput, Hypertelorism, Depressed nasal ridge, Brachycephaly, Wide nasal brid... ORPHA:2211
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Depressed nasal bridge, Dysplastic corpus callosum, Colpocephaly, Microdon... OMIM:619955
Maternal Phenylketonuria
Anteverted nares, Micrognathia, Esophageal atresia, Wide nasal bridge, Hypotelorism, High palate,... ORPHA:2209
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Cataract, Neonatal death, Microphthalmia, Ventriculomegaly OMIM:613730
Holoprosencephaly, Semilobar, With Craniosynostosis
Coronal craniosynostosis, Lambdoidal craniosynostosis, Semilobar holoprosencephaly OMIM:601370
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia, Cutis marmorata OMIM:615297
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Prominent nose, H... OMIM:180849
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Micrognathia, Hypertelorism, Brachycephaly, Cleft palate, Microcornea, Hi... OMIM:156610
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... ORPHA:254864
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia OMIM:300580
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Galloway-Mowat Syndrome 9
Hypertelorism, Hiatus hernia, Ventriculomegaly, Hypotelorism OMIM:619603
Kapur-Toriello Syndrome
Intestinal malrotation, Dysplastic corpus callosum, Bulbous nose, Orofacial cleft, Retinal colobo... ORPHA:2328
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Hypertelorism, ... OMIM:617883
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Frontal bossing, Wide nose, Ventriculomegaly, Depressed nasal bridge, Cataract, Micrognathia, Cle... ORPHA:93271
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Smooth philtrum, Tented upper lip vermilion, Prominent nasal... OMIM:615582
Stormorken Syndrome
Epistaxis, Prominent nose, Hypotelorism, Deeply set eye, Short philtrum, Bruising susceptibility OMIM:185070
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia OMIM:619981
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Peters anomaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Colp... OMIM:309801
Microphthalmia, Isolated 8
Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia OMIM:615113
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cataract, Sclerocornea, Lateral ventricle dilatation, Thin vermilion bo... OMIM:619869
Nance-Horan Syndrome
Mandibular prognathia, Cataract, Prominent nasal bridge, Prominent nose, Abnormality of the denti... ORPHA:627
Hermansky-Pudlak Syndrome 10
Apnea, Ocular albinism, Hypotelorism, Retrognathia, Smooth philtrum OMIM:617050
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Anteverted nares, Hypertelorism, Esophageal varix, Wide m... OMIM:216360
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Optic nerve hypoplasia, Spina... ORPHA:508498
Cousin Syndrome
Frontal bossing, Micrognathia, Hypertelorism, Hydrocephalus, Alveolar ridge overgrowth, Cleft pal... OMIM:260660
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, High palate,... ORPHA:596
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Wide nasal bridge, Lateral ventricle dilatation, ... OMIM:300896
Diaphanospondylodysostosis
Respiratory distress, Depressed nasal bridge, Micrognathia, Hypertelorism, Depressed nasal ridge,... OMIM:608022
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Promin... ORPHA:435638
Chitayat Syndrome
Respiratory distress, Depressed nasal bridge, Anteverted nares, Hypertelorism, Short columella, P... OMIM:617180
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation, Cataract ORPHA:291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Micrognathia, Hydrocephalus, Buphthalmos, Coloboma, Hypoplasia of the retina, Everted l... OMIM:253280
Martsolf Syndrome 1
Enlarged sylvian cistern, Cataract, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the ma... OMIM:212720
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation ORPHA:26792
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Hypotelorism, Inflammation of the large intestine, Intrauterine... OMIM:620133
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Congenital Fibrinogen Deficiency
Cyanosis, Developmental cataract, Gingival bleeding, Microphthalmia, Volvulus, Bruising susceptib... ORPHA:335
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Furrowed tongue, Pl... ORPHA:453499
Microphthalmia, Syndromic 9
Anophthalmia, Micrognathia, Bilateral microphthalmos, Wide nasal bridge, Respiratory insufficienc... OMIM:601186
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na... ORPHA:314655
Cree Mental Retardation Syndrome
Cleft soft palate, Hypertelorism, Micrognathia, Brachycephaly, Coloboma OMIM:606851
Dubowitz Syndrome
Micrognathia, Rectal prolapse, High palate, Spina bifida occulta, Depressed nasal bridge, Hyperte... ORPHA:235
Cranioectodermal Dysplasia 1
Frontal bossing, Anteverted nares, Sagittal craniosynostosis, High, narrow palate, Scaphocephaly,... OMIM:218330
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Nanophthalmos
Microphthalmia ORPHA:35612
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Depressed nasal bridge, Carious teeth, Wide nasal bridge, Widely spaced tee... OMIM:617102
Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Anteriorly placed anus, Microphthalmia ORPHA:2717
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atre... ORPHA:2759
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Submuco... OMIM:222765
Double Outlet Right Ventricle
Cyanosis, Depressed nasal bridge, Intestinal malrotation, Hypertelorism, Submucous cleft hard pal... ORPHA:3426
Manitoba Oculotrichoanal Syndrome
Anal stenosis, Anophthalmia, Hypertelorism, Bifid nasal tip, Broad nasal tip, Anteriorly placed a... OMIM:248450
Branchiooculofacial Syndrome
Anophthalmia, Micrognathia, Premature graying of hair, Iris coloboma, Depressed nasal bridge, Hyp... OMIM:113620
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Thin upper lip vermilion, High, narrow palate, Bulbous nose, Cleft palate, Anteriorly placed anus... OMIM:618494
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Exaggerated cupid's bow, Sclerocornea, Underdeveloped nasal alae, Hypertelorism, Microg... OMIM:614230
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Apnea, Decreased response to growth hormone stimulation test, Dental crowd... OMIM:619503
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Ankyloglossia OMIM:602361
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Cardiofacioneurodevelopmental Syndrome
Hypertelorism, Micrognathia, Cleft lip, Cleft palate, Hypotelorism OMIM:619123
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Lateral ventricle dilatation ORPHA:2148
Ritscher-Schinzel Syndrome 3
Death in infancy, Thin upper lip vermilion, Anteverted nares, Hypertelorism, Micrognathia, Wide a... OMIM:619135
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Prominent nose, Phakodonesis, Ectopia ... OMIM:601552
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Deep p... OMIM:610536
Lymphatic Malformation 10
Lymphedema OMIM:619369
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Galloway-Mowat Syndrome 1
Ventriculomegaly, Flat occiput, Cataract, Narrow nasal ridge, Prominent nose, Micrognathia, Hyper... OMIM:251300
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Hypertelorism, Broad nasal tip, Micrognathia ORPHA:166016
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Respiratory distress, Cataract, Hypodontia, Short nose, Midface retrusion ORPHA:544503
Roberts-Sc Phocomelia Syndrome
Micrognathia, Brachycephaly, Coloboma, High palate, Shallow orbits, Hyperplasia of the maxilla, H... OMIM:268300
Microgastria-Limb Reduction Defect Syndrome
Frontal bossing, Anophthalmia, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal ... ORPHA:2538
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Hypotelorism, Wide mouth, High palate, Death in childhood, Short nose, Co... OMIM:300661
Kapur-Toriello Syndrome
Cataract, Intestinal malrotation, Cleft upper lip, Bulbous nose, Cleft palate, Retinal coloboma, ... OMIM:244300
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Microcornea, Kera... OMIM:234050
Doors Syndrome
Respiratory distress, Short lingual frenulum, Brachycephaly, Downturned corners of mouth, High pa... ORPHA:79500
Oculoauricular Syndrome
Posterior embryotoxon, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcorne... OMIM:612109
Rodrigues Blindness
Narrow nasal bridge, Sclerocornea, Nasal flaring, Microcornea, Ectodermal dysplasia, Microphthalm... OMIM:268320
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Brachycephaly, Hypotelorism, Wide mouth, Posterior plagiocephaly, Duodena... OMIM:617798
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Cutis marmorata, Hypertelorism, Bilateral microphthal... ORPHA:2563
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Micrognathia, Hypertelorism, Wide nasal bridge, Hypoxemia, P... ORPHA:2282
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Narrow mouth, Hydrocepha... ORPHA:77301
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... OMIM:612776
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Apnea, Micrognathia, Depressed nasal ridge, High palat... OMIM:114290
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Brachycephaly, Cleft palate, Later... OMIM:263520
Tarp Syndrome
Cyanosis, Anteverted nares, Apnea, Hypertelorism, Micrognathia, Pierre-Robin sequence, Wide nasal... ORPHA:2886
Kabuki Syndrome 1
Anal stenosis, Intestinal malrotation, Micrognathia, Malabsorption, Abnormality of the dentition,... OMIM:147920
Ramos-Arroyo Syndrome
Respiratory distress, Frontal bossing, Anteverted nares, Depressed nasal bridge, Aganglionic mega... ORPHA:1051
Constricting Bands, Congenital
Encephalocele, Facial cleft, Cleft palate, Cleft upper lip OMIM:217100
Tetrasomy 12P
Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Anteverted nares, Hypertelo... ORPHA:884
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cataract, Depressed nasal brid... OMIM:268400
Warburg Micro Syndrome 4
Anteverted nares, Prominent nasal bridge, Brachycephaly, Developmental cataract, Microcornea, Dee... OMIM:615663
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... ORPHA:137888
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Hydrocephalus, Downturned corn... OMIM:619321
Fibular Hemimelia
Anophthalmia, Spina bifida, Craniosynostosis, Abnormal anterior chamber morphology ORPHA:93323
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Micrognathia, Duodenal stenosis, Microphthalmia, Short nose ORPHA:2547
Adams-Oliver Syndrome
Encephalocele, Cataract, Cutis marmorata, Hydrocephalus, Esophageal varix, Pulmonary arterial hyp... ORPHA:974
Fanconi Anemia, Complementation Group L
Micrognathia, Hypertelorism, Esophageal atresia, Hydrocephalus, Wide nasal bridge, Tracheoesophag... OMIM:614083
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Cleft hard palate, Abnormal pupil morphology, Microcornea... ORPHA:261552
Congenital Myasthenic Syndrome
Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insuffic... ORPHA:98914
Cleidocranial Dysplasia 1
Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, High palate, Par... OMIM:119600
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia ORPHA:1423
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Cataract, Macrodontia, Micrognathia, Narrow mout... OMIM:309500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Depressed nasal bridge, Prominent occiput, Respiratory failure, Proptosis, ... OMIM:617895
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Lateral ventricle dilatation OMIM:619487
Kabuki Syndrome
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Hydrocephalus, Cleft palate, O... ORPHA:2322
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Cleft hard palate, Deeply set eye, Short philtrum, Agenes... ORPHA:261537
Weiss-Kruszka Syndrome
Anteverted nares, Exaggerated cupid's bow, Broad philtrum, Colpocephaly, Short nose, Agenesis of ... OMIM:618619
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Spondylo-Ocular Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Hypertelorism, Thin vermilion border, Long philtrum, Mi... ORPHA:85194
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Hydrocephalus, Buphthalmos, Respiratory failure, Microphthalmia, Ventriculomegaly OMIM:616538
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Intrauterin... OMIM:620183
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia OMIM:611561
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur... OMIM:619950
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Frontal bossing, Thin upper lip vermilion, Tented upper lip vermilion, Ante... ORPHA:438216
Schinzel-Giedion Syndrome
Respiratory distress, Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Choanal s... ORPHA:798
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Limbal dermoid, Microph... OMIM:613001
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Monosomy 9P
Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Hypertelorism, Narrow mo... ORPHA:261112
Microphthalmia, Isolated, With Coloboma 9
Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Long philtrum, Microphthalmia, Ocular... OMIM:615145
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Hypertelorism, Broad nasal tip, Protruding tongue, Submucous cleft hard palate, ... OMIM:618106
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Coloboma, Deeply set eye, High palate, Short philtrum, Chorioretinal colobom... OMIM:619475
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Cockayne Syndrome B
Mandibular prognathia, Hypoplasia of the iris, Deeply set eye, Microcornea, Death in childhood, P... OMIM:133540
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Bifid uvula, Iris co... OMIM:620186
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Anteverted nares, Thick lower lip vermilion, Wide nasal bridge, Wide mo... ORPHA:1942
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Frontal bossing, Cloverleaf skull, Anteverted n... OMIM:166250
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Depressed nasal bridge, Hypertelorism, Pyloric... ORPHA:363705
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Congenital Rubella Syndrome
Cataract, Corneal opacity, Jaundice, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine... ORPHA:290
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Frontal bossing, Intestinal polyposis, Depressed nasal bridge, Anteverted nare... ORPHA:276413
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Colpocephaly, Asti... OMIM:609053
Galloway-Mowat Syndrome 3
Frontal bossing, Micrognathia, Hypertelorism, Hiatus hernia, Deeply set eye, High palate, Narrow ... OMIM:617729
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Iris atrophy, Hypertelorism, Cleft upper lip, Brachycephaly, Wide nasal br... OMIM:201180
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Thickened calvaria, Prematurely aged appearance, Abnormal dental enamel mo... ORPHA:2658
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Frontal bossing, Tented upper lip vermilion, Dental crowding, Micrognathia,... OMIM:620369
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... ORPHA:60032
Esophageal Atresia
Respiratory distress, Barrett esophagus, Cyanosis, Choanal atresia, Intestinal malrotation, Pylor... ORPHA:1199
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Persistence of primary teeth, Conical tooth, Microdontia, Dental malocclusion, Wide nas... OMIM:618727
Achondroplasia
Respiratory distress, Frontal bossing, Death in infancy, Depressed nasal bridge, Hydrocephalus, U... OMIM:100800
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Cataract, Malabsorption, Asthma, Triangular mouth, Tela... OMIM:601675
Microphthalmia, Isolated 5
Microphthalmia, Cataract OMIM:611040
Nanophthalmos 4
Microphthalmia OMIM:615972
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Dysplastic corpus callosum, Partial agenesis of th... OMIM:619103
Hyperlysinemia
Craniosynostosis, Recurrent pneumonia, Depressed nasal ridge, Hypotelorism, High palate, Smooth p... ORPHA:2203
Hydranencephaly
Optic nerve hypoplasia, Thalamic edema, Hypotelorism, Intrauterine growth retardation, Dysgenesis... ORPHA:2177
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Cardiofaciocutaneous Syndrome 1
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Open bite, Bulbous nose, H... OMIM:115150
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Arterial Tortuosity Syndrome
Keratoconus, Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Crani... ORPHA:3342
Focal Dermal Hypoplasia
Narrow nasal bridge, Corneal opacity, Abnormal dental enamel morphology, Spina bifida, Ectopia le... ORPHA:2092
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Kyphoscoliotic Ehlers-Danlos Syndrome
Poor wound healing, Micrognathia, Hypotelorism, Microcornea, High palate, Abnormal nasal bridge m... ORPHA:536545
Marcus-Gunn Syndrome
Choanal atresia, Cleft lip, Cleft palate, Abnormality of the sense of smell, Coloboma ORPHA:91412
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Hypertelorism, Hydrocephalus, Hypotelorism, Abnormality of the sphenoid ... ORPHA:363700
Cohen Syndrome
Macrodontia, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia o... ORPHA:193
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles ORPHA:60041
Atelis Syndrome 2
Frontal bossing, Remnants of the hyaloid vascular system, Prominent nose, Micrognathia, Dyspnea, ... OMIM:620185
Oculodentodigital Dysplasia
Narrow nasal bridge, Cataract, Anteverted nares, Selective tooth agenesis, Narrow nose, Underdeve... OMIM:164200
17Q12 Microduplication Syndrome
Microphthalmia, Cleft palate, Tracheoesophageal fistula, Deeply set eye ORPHA:261272
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, High palate OMIM:620011
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Cataract, Hypertelorism, Micrognathia, Brushfield spots, Jaundice, Wide anterio... OMIM:614866
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Frontal bossing, Respiratory distress, Anteverted nares, Depressed n... OMIM:618188
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I... OMIM:169550
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Norrie Disease
Narrow nasal bridge, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Cor... ORPHA:649
22Q11.2 Deletion Syndrome
Micrognathia, Short philtrum, Abnormal dental enamel morphology, Spina bifida, Hypertelorism, Chr... ORPHA:567
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Pierre-Robin sequence, Cleft palate, Cervical myelopathy, Restrictive venti... OMIM:183900
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Matthew-Wood Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia, Duodenal stenosis ORPHA:2470
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Dysplastic corpus callosum, Narrow mouth, Microphthalmia, Agenesis of cor... OMIM:614833
Warburg Micro Syndrome 2
Cataract, Prominent nasal bridge, Brachycephaly, Developmental cataract, Microcornea, Deeply set ... OMIM:614225
Seckel Syndrome 2
Prominent nose, Micrognathia, Microdontia, Microphthalmia, Microglossia OMIM:606744
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Tularemia
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Pleural ... ORPHA:3392
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... ORPHA:100057
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Limbal dermoid, H... OMIM:164210
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Developmental cataract, Microcornea, Mulberry m... OMIM:302350
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Micrognathia, Cleft palate, Midface retrusion, Bifid uvula OMIM:606164
Fryns Syndrome
Tented upper lip vermilion, Agenesis of corpus callosum, Dandy-Walker malformation, Microretrogna... OMIM:229850
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... OMIM:610978
Ohdo Syndrome, X-Linked
Depressed nasal bridge, Prominent nose, Micrognathia, Hypertelorism, Bulbous nose, Hiatus hernia,... OMIM:300895
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anophthalmia, Anteverted nares, Cataract, Wide nasal bridge, Thick vermilion border, C... ORPHA:2526
Microtia
Holoprosencephaly ORPHA:83463
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Anterior pituitary hypoplasia, Hyperte... OMIM:619534
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Abnormal thalamic MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Khan-Khan-Katsanis Syndrome
Frontal bossing, Tented upper lip vermilion, Micrognathia, Triangular mouth, Corneal scarring, Bu... OMIM:618460
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Deeply set eye, Hypotelorism OMIM:616937
Choanal Atresia
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Nasal congestion, Tra... ORPHA:137914
Dubowitz Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Broad nasal tip, Carious teeth, Micrognathia, ... OMIM:223370
Succinic Acidemia
Respiratory distress OMIM:600335
3Q29 Microdeletion Syndrome
Cataract, Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft,... ORPHA:65286
Yunis-Varon Syndrome
Sclerocornea, Abnormal occipital bone morphology, Micrognathia, High, narrow palate, Broad second... ORPHA:3472
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Hypotelorism, Microcornea, Umbilical hernia, Bruising susceptibility OMIM:614557
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Anisocoria, Deeply se... OMIM:613406
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Posterior embryotoxon, Broad nasal tip, Hypertelorism, Deep philtrum, S... OMIM:619194
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Microtia-Anotia
Holoprosencephaly OMIM:600674
Teebi-Shaltout Syndrome
Turricephaly, Underdeveloped nasal alae, Broad nasal tip, Hypertelorism, High, narrow palate, Sca... OMIM:272950
Cardiofaciocutaneous Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Hypertelorism, Hydrocephalus, Submucou... ORPHA:1340
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, High palate, Neonatal death, Retrognathia OMIM:300219
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Malabsorption, Cleft upper lip... ORPHA:50
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cataract, Prominent nasal bridge, Decreased response to growth hormone stimulation test, Underdev... ORPHA:268261
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Adnp Syndrome
Respiratory distress, Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Trigonoc... ORPHA:404448
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Micrognathia, Respiratory insufficiency, Microdontia, Microphthalmia ORPHA:3191
Malaria
Respiratory distress ORPHA:673
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy, Lateral ventricle dilatation ORPHA:2822
Pitt-Hopkins Syndrome
Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hiatus hernia, Abnormal pattern ... ORPHA:2896
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonary arterial hy... ORPHA:70588
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Cerebrooculofacioskeletal Syndrome 4
Prominent nasal bridge, Micrognathia, Bilateral microphthalmos, Deeply set eye, Short philtrum, D... OMIM:610758
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Frontal bossing, Depressed nasal bridge, Hamartoma of tongue, Micrognathia, Hypertel... OMIM:617925
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cataract, Cyanosis, Apnea, Hydrocephalus, Macroglossia, Pleural effusion OMIM:261740
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, High palate, Tongue fasciculations, Respiratory insufficiency ORPHA:1145
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Stickler Syndrome, Type I
Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia, Submucous cleft hard palate, Pi... OMIM:108300
Breath-Holding Spells
Cyanosis OMIM:607578
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Anal stenosis, Optic disc hypoplasia, Choanal atresia, Aganglion... OMIM:607323
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Depressed nasal bridge, Macroglossia, Prolonged neonatal jaundice, Umbilica... ORPHA:226313
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intestinal malrotation, Tachypnea, Esophageal varix, Respiratory insufficiency, Hypotelorism, Dee... OMIM:613658
Zttk Syndrome
Frontal bossing, Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Hypoplas... OMIM:617140
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Hypertelorism, Micrognathia, Rectal fistula, Rectal atresi... OMIM:115470
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Ventriculomegaly, Protruding tongue OMIM:619580
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Shallow anterior chamber OMIM:267760
Fanconi Anemia
Micrognathia, High palate, Spina bifida, Hypertelorism, Aplasia/Hypoplasia of the uvula, Aplasia/... ORPHA:84
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Abnormal pupil morphology, De... ORPHA:534
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Cataract OMIM:251270
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus, Anal atresia, Agenesis of permanent teeth OMIM:617244
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... OMIM:211530
X-Linked Dominant Chondrodysplasia Punctata
Frontal bossing, Cataract, Depressed nasal bridge, Hypertelorism, Microcornea, High palate, Micro... ORPHA:35173
Brachycephaly, Trichomegaly, And Developmental Delay
Flat occiput, Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick low... OMIM:617412
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Retinal coloboma ORPHA:363741
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Asthma, Leukocoria, Cleft... ORPHA:2714
Microphthalmia, Lenz Type
Delayed eruption of teeth, Cataract, Abnormal dental morphology, Abnormality of the dentition, Op... ORPHA:568
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Concave nasal ridge, Decreased response... OMIM:245590
Hallermann-Streiff Syndrome
Natal tooth, Frontal bossing, Choanal atresia, Tracheomalacia, Micrognathia, Underdeveloped nasal... ORPHA:2108
Branchioskeletogenital Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, Downturn... ORPHA:1299
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Downturned corners ... ORPHA:3455
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, High palate, Ventriculomegaly OMIM:619272
Mowat-Wilson Syndrome
Delayed eruption of teeth, Cataract, Aganglionic megacolon, Hypertelorism, Pyloric stenosis, Subm... OMIM:235730
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Aganglionic megacolon, Hypertelorism, Optic disc coloboma, Micro... ORPHA:959
Microcephalic Primordial Dwarfism, Dauber Type
Hypotelorism, Severe intrauterine growth retardation, Prominent nose ORPHA:319675
Coffin-Lowry Syndrome
Mandibular prognathia, Rectal prolapse, Thick nasal septum, High palate, Widely spaced teeth, Acr... OMIM:303600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bifid nasal tip, Unilateral microphthalmos, Bilateral cleft lip and pal... OMIM:618874
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Optic nerve hypoplasia, Micrognathia, Hypertelorism, Respiratory insuff... OMIM:615574
Orofaciodigital Syndrome Type 4
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... ORPHA:2753
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, Coloboma, High palate, Aspiration, Abnormal lateral ventricle morp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, Coloboma, High palate, Aspiration, Abnormal lateral ventricle morp... ORPHA:353277
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Downturned corners of mouth, Deeply set eye, Conjunc... OMIM:616268
Hydrolethalus Syndrome 1
Median cleft lip, Micrognathia, Anencephaly, Cleft palate, Stillbirth, Bifid nose, Midline defect... OMIM:236680
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphth... ORPHA:2728
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Cataract, Micrognathia, Trismus, Bulbous nose, Recurrent pneumonia, Intraut... OMIM:616271
Schimmelpenning-Feuerstein-Mims Syndrome
Coloboma, Abnormality of dental color, Cranial asymmetry, Corneal opacity OMIM:163200
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Intrauterine growth retardation OMIM:616733
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Micrognathia, Submucous cleft soft pal... ORPHA:2751
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Macular coloboma, Pulmonary embolism, Hydrocephalus, Jaundice, Pulmonary ar... ORPHA:79282
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Odontochondrodysplasia 1
Delayed eruption of teeth, Death in infancy, Respiratory distress, Long philtrum, Dentinogenesis ... OMIM:184260
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Radio-Renal Syndrome
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Downtur... ORPHA:3015
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Depressed nasal bridge, Wide anterior fontanel, Jaundice, Developmental cat... OMIM:231680
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Smooth philtrum, Frontal bossing, Decreased response to growth hormone stimulation test, Deep phi... OMIM:617260
W Syndrome
Depressed nasal bridge, Hypertelorism, Broad nasal tip, Submucous cleft hard palate, Agenesis of ... ORPHA:2804
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard p... ORPHA:178303
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Frontal bossing, Corneal opacity ORPHA:2788
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Spondyloenchondrodysplasia
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Decreased response to growth ho... ORPHA:1855
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta... OMIM:619227
Osteogenesis Imperfecta, Type X
Respiratory distress, Micrognathia, Pyloric stenosis, Dentinogenesis imperfecta, Recurrent pneumo... OMIM:613848
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Ear-Patella-Short Stature Syndrome
Respiratory distress, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow pal... ORPHA:2554
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Cataract, Prominent nasal bridge, Hypertelorism,... OMIM:139210
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Gingival overgrowth, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Long philtrum, Acrocyanosis, Prominent nose OMIM:614407
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, L... ORPHA:100050
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation, Death in childhood OMIM:615597
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Asthma, Brachycephaly, Plagiocephaly, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Tetraamelia Syndrome 1
Cataract, Choanal atresia, Micrognathia, Cleft upper lip, Hydrocephalus, Single naris, Cleft pala... OMIM:273395
Hereditary Bullous Dystrophy, Macular Type
Turricephaly, Cataract, Corneal opacity, Pneumonia, Acrocyanosis ORPHA:1867
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Ventriculomegaly OMIM:620166
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw, Ventriculome... ORPHA:199276
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mo... OMIM:154500
Linear Nevus Sebaceus Syndrome
Frontal bossing, Ventriculomegaly, Prominent occiput, Plagiocephaly, Biparietal narrowing, Microp... ORPHA:2612
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Carious teeth, Hypertelorism, Wid... OMIM:616734
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... ORPHA:90051
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Hypoventilation, Neonatal respiratory distress, Respiratory distress, Resp... ORPHA:98915
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ... ORPHA:740
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Ocular albinism, Wide nasal bridge, Anteriorly placed anus, Microphthalmia, Anal at... ORPHA:1352
Tricuspid Atresia
Cyanosis ORPHA:1209
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Mic... ORPHA:1806
Multiple Benign Circumferential Skin Creases On Limbs
Micrognathia, Cleft palate, Microcornea, Umbilical hernia, Long philtrum, Microphthalmia ORPHA:2505
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnor... OMIM:305100
Buratti-Harel Syndrome
Hypertelorism, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hi... OMIM:619314
Roberts Syndrome
Cataract, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Cleft upper l... ORPHA:3103
Williams-Beuren Syndrome
Colonic diverticula, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Celiac disease, R... OMIM:194050
Neuroocular Syndrome
Lens coloboma, Microcornea, Deeply set eye, Downturned corners of mouth, Widely spaced teeth, Tor... OMIM:619539
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Incontinentia Pigmenti
Delayed eruption of teeth, Cataract, Corneal opacity, Abnormal dental enamel morphology, Telangie... ORPHA:464
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hydrocephalus, Stridor, Macroglossia, Conjunctivitis, Thick vermilion borde... ORPHA:505248
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormal mandible morphology, Abnormality of th... ORPHA:3201
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Smooth philtrum, Frontal bossing, Acute respiratory distress syndrome, Cataract, Depressed nasal ... OMIM:620005
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Cough ORPHA:142
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
8Q24.3 Microdeletion Syndrome
Microretrognathia, Respiratory distress, Ectopic posterior pituitary, Thin upper lip vermilion, A... ORPHA:508488
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow nasal bridge, Frontal bossing, Dental crowding, Prominent nose, Dysplastic corpus callosum... OMIM:300967
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Hypertelorism, Aqueductal stenosis, Posteriorly placed anus, Hydr... OMIM:306955
Orofaciodigital Syndrome Type 14
Microretrognathia, Dilated fourth ventricle, Hamartoma of tongue, Accessory oral frenulum, Bulbou... ORPHA:434179
Oromandibular Dystonia
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... ORPHA:93958
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Hypoplasia of the maxilla, Submucous ... ORPHA:2588
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Choanal atresia, Hydrocephalus, Tracheoesophageal fistula, ... OMIM:107480
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Bulbous nose, A... ORPHA:466943
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Mandibular prognathia, Dental crowding, Narrow nasal ridge, Open bite, Plagiocephaly, Colpocephal... OMIM:620083
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Intercostal retractions, Corneal astigmatism, Episodic respira... ORPHA:141083
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia ORPHA:85167
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, ... ORPHA:2756
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Vertebral Hypersegmentation And Orofacial Anomalies
Anteverted nares, Micrognathia, Submucous cleft hard palate, Prominent occiput, Unilateral cleft ... OMIM:619122
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Isolated Atp Synthase Deficiency
Respiratory distress, Cataract ORPHA:254913
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Immunodeficiency 47
Death in infancy, Prolonged neonatal jaundice, Hypotelorism OMIM:300972
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Cataract, Depressed nasal bridge, Dental cro... OMIM:300990
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Wide nose, Recurrent pneumonia, Wide nasal bridge, Macroglossia, Thick verm... OMIM:617303
Marden-Walker Syndrome
Micrognathia, Pyloric stenosis, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Narrow ... ORPHA:2461
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Prominent nose, Brachycephaly, Abnormal periodontium morphology, High palat... ORPHA:480880
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Intrauterine growth retardation, Agenesis of corpus callosum, Optic nerve hypoplasia OMIM:617914
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Congenital Diaphragmatic Hernia
Hypoxemia, Intestinal malrotation, Respiratory distress ORPHA:2140
Chondrodysplasia Punctata 2, X-Linked Dominant
Frontal bossing, Ventriculomegaly, Cataract, Concave nasal ridge, Microphthalmia, Malar flattenin... OMIM:302960
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Mogs-Cdg
Respiratory distress, Hypoventilation, Wide nose, Apnea, Prominent occiput, High palate, Retrogna... ORPHA:79330
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Short umbilical cord OMIM:618367
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Brachy... OMIM:619472
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Cleft hard palate, Deeply set eye, Widely spaced teeth, A... ORPHA:2152
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Cataract OMIM:618805
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Nasal polyposis, Sinusitis, Cutis marmorata, Malabsorption, Asthma, Respi... ORPHA:183
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short lingual frenulum, Partial anosmia, Total anosmia, Midgut malrotation, Cleft palate ORPHA:2326
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Wide nose, Recurrent upper respiratory tract infe... OMIM:607143
Waardenburg Syndrome Type 3
Narrow nasal bridge, Acrocyanosis, Tracheomalacia, Tented upper lip vermilion ORPHA:896
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate OMIM:257910
Fanconi Anemia, Complementation Group J
Microphthalmia, Intrauterine growth retardation OMIM:609054
Meier-Gorlin Syndrome 1
Respiratory distress, Frontal bossing, Death in infancy, Micrognathia, Hypoplasia of the maxilla,... OMIM:224690
Dravet Syndrome
Cyanotic episode ORPHA:33069
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, ... OMIM:612292
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Depressed nasal bridge, Bifid uvula OMIM:601492
Microphthalmia, Syndromic 1
Anophthalmia, Aganglionic megacolon, Dental crowding, Cleft upper lip, High, narrow palate, Recta... OMIM:309800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Hypertelorism, Abnormality of canin... ORPHA:477993
Tolchin-Le Caignec Syndrome
Prominent nose, Micrognathia, Hypertelorism, Scaphocephaly, Oxycephaly, Wide nasal bridge, Submuc... OMIM:618971
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Depressed nasal bridge, Anteverted nares, Decreased response to growth... ORPHA:293987
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Death in infancy, Respiratory distress, Respiratory failure, High palate, ... OMIM:620278
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... ORPHA:2038
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Diamond-Blackfan Anemia
Depressed nasal bridge, Cleft soft palate, Hypertelorism, Micrognathia, Cleft lip, Developmental ... ORPHA:124
Blepharophimosis, Ptosis, And Epicanthus Inversus
Depressed nasal bridge, Increased circulating gonadotropin level, Wide nasal bridge, Microcornea,... OMIM:110100
Buerger Disease
Acrocyanosis ORPHA:36258
6Q Terminal Deletion Syndrome
Hypertelorism, Micrognathia, High, narrow palate, Plagiocephaly, Colpocephaly, Thick vermilion bo... ORPHA:75857
Restrictive Dermopathy 1
Natal tooth, Prominent superficial blood vessels, Depressed nasal bridge, Choanal atresia, Narrow... OMIM:275210
Cerebrocostomandibular Syndrome
Anal stenosis, Neonatal respiratory distress, Cleft soft palate, Micrognathia, Carious teeth, Cle... OMIM:117650
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Phakomatosis Pigmentokeratotica
Coloboma, Spina bifida ORPHA:2874
Refsum Disease
Microphthalmia, Cataract, Anosmia, Respiratory insufficiency ORPHA:773
Adams-Oliver Syndrome 1
Encephalocele, Cutis marmorata, Cleft upper lip, Cleft palate, Pulmonary arterial hypertension, M... OMIM:100300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Non-mi... ORPHA:1071
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Mgat2-Cdg
Respiratory distress, Dental crowding, Hypertelorism, Dolichocephaly, Recurrent upper and lower r... ORPHA:79329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Depressed nasal bridge, Midface retrusion OMIM:151210
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge... ORPHA:83461
Myotonic Dystrophy 1
Respiratory distress, Cataract OMIM:160900
Arthrogryposis, Distal, Type 3
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula OMIM:114300
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Velocardiofacial Syndrome
Posterior embryotoxon, Underdeveloped nasal alae, Bulbous nose, Submucous cleft hard palate, Velo... OMIM:192430
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Xeroderma Pigmentosum, Complementation Group B
Cataract, Progeroid facial appearance, Microphthalmia, Cutaneous photosensitivity, Ventriculomegaly OMIM:610651
Branchiogenic-Deafness Syndrome
Branchial cyst, Trismus, Submucous cleft hard palate, Branchial fistula OMIM:609166
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Short nose, Long philtrum ORPHA:50810
Pachyonychia Congenita
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia ORPHA:2309
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Micrognathia, Recurrent upper respiratory tract infections, Coloboma, Protein-l... OMIM:618183
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Esophageal varix, Respiratory insufficiency ORPHA:367
Tetanus
Respiratory distress, Trismus, Tachypnea ORPHA:3299
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Conjunctivitis, Hyperventilation ORPHA:79241
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Cataract, Dental crowding, Intestinal malrotation, Pneumonia, Carious teeth, Supernu... ORPHA:353281
Fucosidosis
Corneal opacity, Abnormality of the dentition, Brachycephaly, Acrocyanosis, Vascular skin abnorma... ORPHA:349
Lymphedema-Distichiasis Syndrome
Micrognathia, Cleft upper lip, Cleft palate, Conjunctivitis, Chylothorax, Recurrent corneal erosi... OMIM:153400
Diamond-Blackfan Anemia 10
Respiratory distress, Choanal atresia, Micrognathia, Cleft palate, Malar flattening OMIM:613309
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Micrognathia ORPHA:93316
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Prominent nose, Long nose, Micrognathia, Bulbous nose, Submucous cleft hard palate, Dyspnea, Clef... ORPHA:2636
Thauvin-Robinet-Faivre Syndrome
Hypertelorism, Coloboma, Deeply set eye, Macroglossia, Retinal coloboma, Thick vermilion border, ... OMIM:617107
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Phace Syndrome
Cataract, Heterochromia iridis, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalm... ORPHA:42775
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula, Spinal dysraphism OMIM:617660
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Deafness, X-Linked 7
Unilateral microphthalmos, Wide nasal bridge OMIM:301018
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Anteriorly placed anus ORPHA:26793
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Keratoconjunctivitis ORPHA:79242
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion ORPHA:1546
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology ORPHA:209956
Choreoacanthocytosis
Lateral ventricle dilatation, Temporomandibular joint crepitus, Protruding tongue ORPHA:2388
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate OMIM:271225
Cockayne Syndrome
Deeply set eye, Lentiglobus, Abnormal dental morphology, Agenesis of permanent teeth, Abnormal co... ORPHA:191
Farber Disease
Respiratory distress, Corneal opacity, Recurrent upper respiratory tract infections, Respiratory ... ORPHA:333
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Cleft Soft Palate
Cleft soft palate OMIM:119570
Aicardi-Goutieres Syndrome 1
Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Ventriculomegaly ORPHA:292
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Corneal opacity, Anteverted nares, Hypertelorism, Brachycephaly, Open mouth... OMIM:615273
Cockayne Syndrome Type 3
Cataract, Carious teeth, Microcornea, Deeply set eye, Keratoconjunctivitis sicca, Lentiglobus, Pr... ORPHA:90324
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura ORPHA:343
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Agenesis of corpus callosum OMIM:618733
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis OMIM:617478
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Micrognathia, Underdeveloped nasal alae, Pyloric stenosis, Wide nasal bridg... ORPHA:83617
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... OMIM:278730
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
U-Shaped upper lip vermilion, Craniosynostosis, Micrognathia, Parietal foramina, Hypertelorism, W... OMIM:609945
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Elevated circulating luteinizing hormone level OMIM:250790
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Native American Myopathy
Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth, High palate, ... ORPHA:168572
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... ORPHA:141127
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fascicu... OMIM:252010
Papillorenal Syndrome
Cataract, Lens luxation, Optic disc coloboma, Retinal coloboma, Microphthalmia OMIM:120330
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Primary Dystonia, Dyt4 Type
Respiratory distress, Movement abnormality of the tongue, Open mouth ORPHA:98805
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system, Cataract... OMIM:609049
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... OMIM:613805
Japanese Encephalitis
Respiratory distress, Focal T2 hyperintense thalamic lesion, Respiratory paralysis, Abnormal thal... ORPHA:79139
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Mydriasis, Exaggerated cupid's bow, Downturned corners of mouth, Asp... ORPHA:2131
Toxic Epidermal Necrolysis
Respiratory distress, Malabsorption, Intestinal perforation, Corneal erosion, Erythema, Tracheoes... ORPHA:537
Incontinentia Pigmenti
Delayed eruption of teeth, Hypoplasia of the fovea, Cataract, Conical tooth, Keratitis, Erythema,... OMIM:308300
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Coccidioidomycosis
Respiratory distress, Pneumonia, Broad skull, Hydrocephalus, Pleural empyema, Cough, Exudative pl... ORPHA:228123
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Ventriculomegaly OMIM:620306
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Double Outlet Left Ventricle
Cyanosis, Tachypnea, Orofacial cleft, Hypertelorism ORPHA:3427
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis ORPHA:36234
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submuc... ORPHA:69085
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypogeusia, Decreased sensitivity to hypoxemia, Corneal ulceration, Recurrent corneal erosions, A... OMIM:223900
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura ORPHA:319213
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Jaundice, Esophageal varix, Bilateral ... OMIM:301068
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Duodenal atresia, Microphthalmi... OMIM:603467
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea... ORPHA:79404
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Malabsorption, Pulmonary embolism, Dyspnea, Angioedema, As... ORPHA:3260
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Urticaria, Interstitial pneumon... ORPHA:37042
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Intrauterine growth retardation, Submucous cleft hard palate, Deeply set eye, Narrow nose OMIM:618891
Osteopetrosis, Autosomal Recessive 8
Frontal bossing, Unilateral microphthalmos OMIM:615085
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Corneal scarring, Recurrent corneal erosions, Prolonged neonatal ... OMIM:256810
Cocaine Intoxication
Respiratory distress, Intestinal perforation, Hyperventilation, Wheezing, Tachypnea, Pneumothorax... ORPHA:90068
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Tuberous Sclerosis Complex
Respiratory distress, Pituitary adenoma, Noncommunicating hydrocephalus, Respiratory failure, Sub... ORPHA:805
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Apnea, Meconium ileus OMIM:617239
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Hypertelorism, Bilateral microphthalmos, Development... ORPHA:93325
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Respiratory failure... OMIM:617666
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Symblepharon, Conjuncti... ORPHA:95455
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Hydrocephalus, Polycoria, Developmental cataract, Hypoplasia of the iris, Microc... OMIM:175780
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... ORPHA:210122
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Corneal erosion, Acrocyanosis, Heterochromia iridis ORPHA:1764
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Stomatitis OMIM:612852
Ulbright-Hodes Syndrome
Respiratory distress, Depressed nasal bridge, Micrognathia, Pneumothorax, Prominent occiput, Resp... ORPHA:3404
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Coloboma ORPHA:47159
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Micrognathia, Hypertelorism,... ORPHA:1662
Genitopatellar Syndrome
Delayed eruption of teeth, Wide nose, Anal stenosis, Prominent nasal bridge, Micrognathia, Promin... OMIM:606170
Aicardi-Goutières Syndrome
Cutis marmorata, Developmental glaucoma, Plagiocephaly, Prolonged neonatal jaundice, Acrocyanosis... ORPHA:51
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Hypertelorism, Prominent nose, Erythema, Res... OMIM:614748
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Abnormality of the dentition, Trismus, Asthma, Smooth tongue, Intrau... ORPHA:3206
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Intrauterine growth retardation, Jaundice, Death in infancy OMIM:617156
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Epistaxis, Pneumonia, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Orofacial cleft ORPHA:17
Phace Association
Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Developmental cataract OMIM:606519
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Prominent nose, Long nose, Micrognathia, Bulbous nose, Submucous cleft hard palate, Prominent occ... ORPHA:3047
Q Fever
Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura ORPHA:781
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure, Conjunctivitis ORPHA:533
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Pneum... ORPHA:31204
Shprintzen Omphalocele Syndrome
Neonatal respiratory distress, Flared nostrils, Wide nasal bridge, Hypoplasia of the pharynx, Sho... OMIM:182210
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Steatorrhea OMIM:260400
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract, Rectal abscess OMIM:600145
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis ORPHA:268943
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation OMIM:616749
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Prematurely aged appearance, Poor wound healing, Hiat... ORPHA:287
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Townes-Brocks Syndrome
Rectoperineal fistula, Cataract, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, Chorio... ORPHA:857
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Apnea, Malabsorption, Abnormality of the dentition, Abnormality of the gingiva, Ging... ORPHA:285
Fanconi Anemia, Complementation Group C
Microphthalmia, Intrauterine growth retardation, Bruising susceptibility OMIM:227645
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia OMIM:601374
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernum... OMIM:617088
Pmm2-Cdg
Mandibular prognathia, Respiratory distress, Dandy-Walker malformation, Cataract, Anteverted nare... ORPHA:79318
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea ORPHA:2299
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... ORPHA:97214
Lowe Oculocerebrorenal Syndrome
Corneal scarring, Developmental cataract, Microphthalmia, Enamel hypoplasia, Dense posterior cort... OMIM:309000
Primary Hyperoxaluria
Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental pulp morphology, A... ORPHA:416
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Fanconi Anemia, Complementation Group E
Microphthalmia, Bruising susceptibility OMIM:600901
Omphalocele Syndrome, Shprintzen-Goldberg Type
Thin upper lip vermilion, Neonatal respiratory distress, Downturned corners of mouth, Hypoplasia ... ORPHA:3164
Fanconi Anemia, Complementation Group A
Microphthalmia, Bruising susceptibility OMIM:227650
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia, Developmental cataract, Thin vermilion border, Long ph... ORPHA:99646
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Cataract ORPHA:314404
Dermatomyositis
Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythema, Respiratory insufficiency, A... ORPHA:221
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia OMIM:259770
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Intestinal malrotation, Umbilical hernia, Intrauterine growth retardation, ... ORPHA:2255
Plague
Respiratory distress, Chapped lip, Enterocolitis, Acute infectious pneumonia, Inflammation of the... ORPHA:707
Truncus Arteriosus
Intrauterine growth retardation, Cyanosis, Tachypnea ORPHA:3384
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Developmental cataract OMIM:127000
Gitelman Syndrome
Respiratory distress ORPHA:358
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Alström Syndrome
Respiratory distress, Abnormality of dental color, Cataract, Dorsocervical fat pad, Decreased res... ORPHA:64
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis ORPHA:51608
Leptospirosis
Respiratory distress, Jaundice, Cough, Pleural effusion, Conjunctival hyperemia ORPHA:509
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nosip

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nosip.

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

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MGI Allele Allele Type Produced
Nosiptm88115(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nosipem1(IMPC)Tcp Exon Deletion Mice

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