Gene Summary

nitric oxide synthase interacting protein
CGI-25,  2310061K06Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
preweaning lethality, complete penetrance Nosipem1(IMPC)Tcp HOM   Early adult 0.00
edema Nosipem1(IMPC)Tcp HOM E15.5 0.00
abnormal lens morphology Nosipem1(IMPC)Tcp HET Early adult 6.93×10-05
abnormal retina blood vessel morphology Nosipem1(IMPC)Tcp HET   Early adult 2.05×10-05
abnormal retina vasculature morphology Nosipem1(IMPC)Tcp HET   Early adult 4.15×10-05
abnormal embryo size Nosipem1(IMPC)Tcp HOM E15.5 0.00
increased monocyte cell number Nosipem1(IMPC)Tcp HET Early adult 2.74×10-05
cataract Nosipem1(IMPC)Tcp HET Early adult 8.76×10-05

Download data as:  TSV  XLS

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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


XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

103 Images

Gross Morphology Embryo E14.5-E15.5


16 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection


8 Images


XRay Images Skull Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

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
Matching phenotypes Source
Holoprosencephaly 5
Semilobar holoprosencephaly, Orofacial cleft, Hypotelorism, Alobar holoprosencephaly, Hydrocephal... OMIM:609637
Edema OMIM:614103
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Solitary Median Maxillary Central Incisor
Cyclopia, Microphthalmia, Hypotelorism, Solitary median maxillary central incisor, Decreased resp... OMIM:147250
Holoprosencephaly 3
Abnormality of the nose, Cyclopia, Single naris, Proboscis, Hypotelorism, Solitary median maxilla... OMIM:142945
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cerebrooculonasal Syndrome
Solitary median maxillary central incisor, Optic nerve hypoplasia, Broad philtrum, Long philtrum,... OMIM:605627
Microform Holoprosencephaly
Short nose, Cyclopia, Orofacial cleft, Hypotelorism, Solitary median maxillary central incisor, S... ORPHA:280200
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Holoprosencephaly 2
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Proptosis, Apl... OMIM:157170
Frontofacionasal Dysplasia
Brachycephaly, Short nose, Tessier cleft, Microphthalmia, Encephalocele, Dimple on nasal tip, Non... ORPHA:1791
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Microphthalmia/Coloboma 5
Orofacial cleft, Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly, Chori... OMIM:611638
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Cyclopia, Respiratory distress, Narrow mouth, Mandibular aplasia, Holoprosencephaly, Agenesis of ... ORPHA:990
Holoprosencephaly 7
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Cranial asymme... OMIM:610828
Proboscis Lateralis
Microphthalmia, Optic nerve hypoplasia, Proptosis, Corneal opacity, Long philtrum, Ventriculomega... ORPHA:141099
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Holoprosencephaly 14
Aqueductal stenosis, Cyclopia, Subependymal cysts, Proboscis, Alobar holoprosencephaly, Hydroceph... OMIM:619895
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Unilateral Ocular Duplication
Encephalocele, Midline facial cleft, Microcornea, Frontal bossing, Dolichocephaly, Cleft palate, ... ORPHA:3374
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Bilateral cleft palate, Non-midline cleft of the upper lip, Choanal ... ORPHA:1104
Frontonasal Dysplasia 1
Widely-spaced maxillary central incisors, Microphthalmia, Coloboma, Bifid nasal tip, Anterior bas... OMIM:136760
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
16P13.11 Microdeletion Syndrome
Short nose, Cyclopia, Anteverted nares, Exaggerated cupid's bow, Cleft upper lip, Cleft palate, H... ORPHA:261236
Holoprosencephaly 1
Tessier cleft, Cyclopia, Microphthalmia, Hypotelorism, Proboscis, Alobar holoprosencephaly, Media... OMIM:236100
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Orofacial cleft, Abnormal nasal bone morphology, Abnormal external nose morphology, Abnormal thir... ORPHA:141091
Hydrocephalus, Spina bifida, Cleft palate, Holoprosencephaly, Calvarial skull defect, Hypertelorism ORPHA:945
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Cataract 42
Cataract, Developmental cataract OMIM:115900
Trisomy 18
Microphthalmia, Anencephaly, Prominent occiput, Intrauterine growth retardation, Narrow palate, C... ORPHA:3380
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Microphthalmia, Solitary median maxillary central incisor, Anosmia, Tooth agenesis, Broad philtru... ORPHA:2162
Pseudotrisomy 13 Syndrome
Cyclopia, Microphthalmia, Hypotelorism, Encephalocele, Hydrocephalus, Anal atresia, Median cleft ... OMIM:264480
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Orofacial cleft, Ocular anterior segment dysgenesis, Microphthalmia, Hyd... ORPHA:324416
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot... ORPHA:411527
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Cyclopia, Solitary median maxillary central incisor, Alobar holopros... OMIM:301043
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Iris coloboma, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Narrow mouth, Inte... ORPHA:3376
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Cyclopia, Microphthalmia, Hypotelorism, Encephalocele, Hydrocephalus, Narrow mou... ORPHA:2166
Hartsfield Syndrome
Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft... ORPHA:2117
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Short philtrum, Anteverted nares, Dilated fourth ventricle, Downturned corners of mou... OMIM:613443
Retrognathia, Gingival cleft, Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Micrognat... ORPHA:2189
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Proptosis, Cleft palate, Holoprosencephaly, Hypertelorism, Median cleft upper lip ORPHA:2165
Holoprosencephaly 11
Hypotelorism, Proptosis, Cleft palate, Holoprosencephaly, Agenesis of corpus callosum, Cleft lip OMIM:614226
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Acromelic Frontonasal Dysostosis
Brachycephaly, Midline defect of the nose, Encephalocele, Midline facial cleft, Parietal foramina... OMIM:603671
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Trigonocephaly, Ventriculomegaly, Short philtrum, Anteverted nares, Frontal bossi... OMIM:612530
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cutaneous photosensitivity, Micrognathia, Cleft palate, Agenesis of corpus callos... OMIM:616570
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Micrognathia, Cutis marmorata, Developmental cataract, Lateral ven... OMIM:614219
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Craniotelencephalic Dysplasia
Microphthalmia, Hypotelorism, Optic nerve hypoplasia, Agenesis of corpus callosum, Craniosynostos... OMIM:218670
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft ala nasi, Anophthalmia, Dandy-Walker malformation, Orbital encephalocele, C... OMIM:164180
Cataract OMIM:190330
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Abnormality iris morphology, Coloboma, Abnormal oral frenulum mor... ORPHA:1617
Chromosome 3Q13.31 Deletion Syndrome
Brachycephaly, Plagiocephaly, Short philtrum, Alobar holoprosencephaly, High palate, Dolichocepha... OMIM:615433
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Short nose, Microphthalmia, Short philtrum, Anteverted nares, High palate, Cataract, Frontal boss... OMIM:614105
Lethal Osteosclerotic Bone Dysplasia
Short nose, Retrognathia, Gingival fibromatosis, Respiratory distress, Anteverted nares, Gingival... ORPHA:1832
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Mandi... ORPHA:1908
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera... OMIM:600776
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Intestinal malrotation, Micrognathia, Cleft palate, B... OMIM:615524
Alobar Holoprosencephaly
Cyclopia, Decreased response to growth hormone stimulation test, Single naris, Proboscis, Hypotel... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Decreased response to growth hormone stimulation test, Single naris, Proboscis, Hypotel... ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Decreased response to growth hormone stimulation test, Single naris, Proboscis, Hypotel... ORPHA:93924
Semilobar Holoprosencephaly
Cyclopia, Decreased response to growth hormone stimulation test, Single naris, Proboscis, Hypotel... ORPHA:220386
Nathalie Syndrome
Cataract ORPHA:2663
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Shallow anterior chamber, Intraretinal exudate, Peripheral vitr... OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerv... OMIM:607597
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Coloboma, Cleft upper lip, Holopro... OMIM:601357
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Short nose, Cleft palate, Broad nasal tip, Tented upper lip vermilion, Lateral ventricle dilatati... OMIM:615716
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Hypotelorism, Oligodontia, Frontal bossing, Lateral ventricle dilatation, Bulbous ... OMIM:618330
Band Heterotopia
Plagiocephaly, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation, Ventricu... OMIM:600348
Facial Clefting, Oblique, 1
Microphthalmia, Coloboma, Cleft upper lip, Cleft palate, Tessier number 4 facial cleft OMIM:600251
Craniosynostosis 6
Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ... OMIM:616602
Cataract-Intellectual Disability-Hypogonadism Syndrome
Brachycephaly, Hypotelorism, Short philtrum, Tooth malposition, Prematurely aged appearance, High... ORPHA:1387
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Baraitser-Winter Syndrome 2
Orofacial cleft, Microphthalmia, Retrognathia, Coloboma, Trigonocephaly, Wide mouth, Agenesis of ... OMIM:614583
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Retrognathia, High, narrow palate, Hypotelorism, Short philtrum, Hydrocephalus, High palate, Micr... OMIM:620156
Holoprosencephaly 9
Microphthalmia, Solitary median maxillary central incisor, Bilateral cleft palate, Optic nerve hy... OMIM:610829
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Vitreous hemorrhage, Retinal neovascularization, Chorior... ORPHA:891
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Short nose, Thin vermilion border, Hypotelorism, Anteverted nares, Intestinal malr... OMIM:614701
1Q41Q42 Microdeletion Syndrome
Hypotelorism, Abnormality iris morphology, Underdeveloped nasal alae, Frontal bossing, Cleft pala... ORPHA:250999
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Hypotelorism, Anteverted nares, High palate, Glossoptosis, Frontal bossing, Hypertelo... OMIM:613604
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Agnathia-Otocephaly Complex
Wide nose, Respiratory distress, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, Ho... OMIM:202650
Anencephaly 2
Anencephaly, Anophthalmia, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Media... OMIM:619452
Frontonasal Dysplasia 3
Brachycephaly, Tessier cleft, Microphthalmia, Cleft palate, Hypertelorism, Wide nasal bridge, Und... OMIM:613456
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Cutis Laxa, Autosomal Recessive, Type Iib
Hypotelorism, Excessive wrinkled skin, Hydrocephalus, Narrow nasal ridge, High palate, Intrauteri... OMIM:612940
Monosomy 18P
Brachycephaly, Microphthalmia, Short philtrum, Tooth malposition, Carious teeth, Downturned corne... ORPHA:1598
Trisomy 1Q
Hypotelorism, Wide nose, Anophthalmia, Hydrocephalus, Narrow mouth, Anal atresia, Frontal bossing... ORPHA:261344
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Micrognathia, Lateral ventricle dilatation, Intrauterine growth retardation, Cr... ORPHA:284417
Oculomaxillofacial Dysostosis
Abnormality of the nose, Tessier cleft, Corneal opacity, Abnormality of the dentition, Aplasia/Hy... ORPHA:1794
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Hypotelorism, Respiratory distress, High palate, Death in infancy, Micrognathia, Thin... OMIM:615042
Cerebrooculonasal Syndrome
Abnormal nostril morphology, Brachycephaly, Tessier cleft, Widely spaced teeth, Solitary median m... ORPHA:66625
Richieri-Costa/Guion-Almeida Syndrome
Brachycephaly, Hypotelorism, Spina bifida occulta, Mandibular prognathia, Cleft upper lip, Cleft ... OMIM:268850
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Hypotelorism, High palate, Micrognathia, Broad nasal tip, Prominent nasal bridge, Smo... OMIM:613544
Malan Overgrowth Syndrome
Plagiocephaly, Optic disc hypoplasia, High palate, Narrow mouth, Frontal bossing, Depressed nasal... ORPHA:420179
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Meckel Syndrome, Type 8
Short nose, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Depressed nasal... OMIM:613885
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ... ORPHA:90050
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Cataract, Wide nasal bridge, Lateral ventricle dilatation, Iris coloboma ORPHA:79326
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic ner... OMIM:618736
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth... ORPHA:861
Glutamine Deficiency, Congenital
Short nose, Thin vermilion border, Subependymal cysts, Erythema, Anteverted nares, Apnea, Neonata... OMIM:610015
Distal Deletion 13Q
Anencephaly, Encephalocele, Anal atresia, Aplasia/Hypoplasia affecting the eye, Holoprosencephaly... ORPHA:1590
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Microphthalmia, Hydrocephalus, Tracheoesophageal fistula, Microgn... ORPHA:268249
Trisomy 13
High, narrow palate, Microphthalmia, Hypotelorism, Anophthalmia, Aplasia/Hypoplasia of the iris, ... ORPHA:3378
Chromosome 5P13 Duplication Syndrome
Brachycephaly, Turricephaly, Hypotelorism, Astigmatism, Short philtrum, Low hanging columella, Hi... OMIM:613174
Oculocerebrocutaneous Syndrome
Tessier cleft, Orofacial cleft, Hydrocephalus, Dandy-Walker malformation, Corneal opacity, Wide m... ORPHA:1647
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Esophageal atresia, Anophthalmia, Hydrocephalus, Tracheoesophageal fistula, Holop... ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Death in childhood, Hydrocephalus, Dandy-Walker malformation, Coloboma, Corneal o... OMIM:613153
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Hydrocephalus, Dandy-Walker malformation, Microcornea, Corneal opac... ORPHA:899
Distal Monosomy 7Q36
Abnormal calvaria morphology, Non-midline cleft of the upper lip, Micrognathia, Cleft palate, Wid... ORPHA:1636
Mosaic Trisomy 9
Tessier cleft, Microphthalmia, Hypotelorism, Prominent occiput, Dandy-Walker malformation, High p... ORPHA:99776
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Microphthalmia, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Cleft p... ORPHA:306542
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Respiratory distress, Hydrocephalus, Anteverted nares, High palate, Intraute... OMIM:612863
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Non-Distal Duplication 13Q
Short nose, Thin vermilion border, Hypotelorism, High palate, Everted lower lip vermilion, Abnorm... ORPHA:1702
Congenital Hydrocephalus
Hydrocephalus, Frontal bossing, Colpocephaly, Ventriculomegaly, Bulbous nose, Macular hypoplasia,... ORPHA:2185
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:611040
Tonne-Kalscheuer Syndrome
Widely spaced teeth, Hypotelorism, Narrow mouth, Velopharyngeal insufficiency, Downturned corners... OMIM:300978
Martsolf Syndrome 2
Cataract, Developmental cataract, Broad nasal tip, Lateral ventricle dilatation OMIM:619420
Frontonasal Dysplasia 2
Microphthalmia, Parietal foramina, Bifid nasal tip, Aplasia of the nasal bone, Broad philtrum, In... OMIM:613451
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Hypotelorism, Short philtrum, Prominent occiput, Anteverted nares, ... OMIM:618672
6P22 Microdeletion Syndrome
Hydrocephalus, Abnormal palate morphology, Deeply set eye, Hypotelorism ORPHA:251046
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Orofacial cleft, Cyclopia, Iris coloboma, Hypotelorism, Microphthalmia, Holoprosencephaly, Median... ORPHA:3186
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... OMIM:193220
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Cloverleaf skull, Proptosis, Frontal bossing, Holoprosencephaly, Ve... ORPHA:93274
Prader-Willi Syndrome Due To Translocation
Retrognathia, Stellate iris, Proptosis, Everted lower lip vermilion, Bifid uvula, Wide mouth, Lat... ORPHA:177907
Developmental And Epileptic Encephalopathy 87
Widely spaced teeth, Hypotelorism, High palate, Wide mouth, Prominent nose, Bulbous nose, Hyperte... OMIM:618916
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Leber Congenital Amaurosis 2
Keratoconus, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels, Catara... OMIM:204100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcornea, Proptosis, Intrauterine growth retardation, Cataract, Micrognathia, ... OMIM:616171
Pontocerebellar Hypoplasia, Type 13
Short philtrum, Anteverted nares, Dandy-Walker malformation, High palate, Volvulus, Thick upper l... OMIM:618606
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, Micrognathia, Cleft palate, Mic... ORPHA:141152
Microphthalmia/Coloboma 4
Coloboma, Microphthalmia, Microcornea OMIM:251505
Lambotte Syndrome
Semilobar holoprosencephaly, Ocular anterior segment dysgenesis, Retrognathia, Narrow mouth, Intr... OMIM:245552
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Pierpont Syndrome
Brachycephaly, Thin vermilion border, Microphthalmia, Widely spaced teeth, Abnormal subcutaneous ... ORPHA:487825
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Hypotelorism, Broad alveolar ridges, High palate, Trigonocephaly, Co... OMIM:314320
Long philtrum, Abnormal lateral ventricle morphology, Anteverted nares, Hypertelorism ORPHA:324422
Intellectual Developmental Disorder, X-Linked 103
Anteverted nares, Wide mouth, Lateral ventricle dilatation OMIM:300982
Pontocerebellar Hypoplasia, Type 12
Micrognathia, Lateral ventricle dilatation, Death in infancy OMIM:618266
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Hypotelorism, Solitary median maxillary central incisor, Prominent o... ORPHA:556955
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Ritscher-Schinzel Syndrome 4
Narrow palate, Brachycephaly, Plagiocephaly, Hypotelorism, Short philtrum, Dandy-Walker malformat... OMIM:619435
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Intellectual Developmental Disorder, Autosomal Dominant 74
Brachycephaly, Hypotelorism, Intrauterine growth retardation, Smooth philtrum, Prominent nose, De... OMIM:620688
Bainbridge-Ropers Syndrome
Retrognathia, Dental crowding, Proptosis, Everted lower lip vermilion, Death in infancy, Intestin... OMIM:615485
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Hypotelorism, Short philtrum, Mandibular prognathia, Death in infancy, Bif... OMIM:618622
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia, Intestinal malrotation, Wide mouth, Hydrocephalus, Cleft ... OMIM:243605
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Hypotelorism, High palate, Everted lower lip vermilion, Umbilical hernia, Frontal... OMIM:613884
Alkuraya-Kucinskas Syndrome
Short nose, Plagiocephaly, Hypotelorism, Hydrocephalus, Anteverted nares, Dandy-Walker malformati... OMIM:617822
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Microphthalmia, Hypotelorism, Narrow mouth, Anal atresia ORPHA:3469
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment OMIM:614284
Distal Deletion 10Q
Brachycephaly, Short nose, Astigmatism, Hypotelorism, Spina bifida occulta, High palate, Proptosi... ORPHA:96148
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Frontoocular Syndrome
Hypotelorism, Narrow philtrum, High palate, Proptosis, Narrow mouth, Trigonocephaly, Coronal cran... OMIM:605321
Microphthalmia/Coloboma 6
Bilateral microphthalmos, Coloboma, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Perching Syndrome
Cyanosis, High palate, Depressed nasal bridge, Respiratory distress OMIM:617055
Ritscher-Schinzel Syndrome 1
Brachycephaly, Decreased response to growth hormone stimulation test, Prominent occiput, Hydrocep... OMIM:220210
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Microcornea, High palate, Sclerocornea, Chorioretinal coloboma, Age... ORPHA:139471
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Hypotelorism, Broad secondary alveolar ridge, High palate, Multiple suture craniosynostosis, Trig... ORPHA:3369
Hypotelorism, Hydrocephalus, Median cleft palate, Depressed nasal tip, Bilateral cleft lip, Thick... OMIM:612651
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Narrow mouth, Cleft upper lip, Micrognathia, Cleft palate, Broad nasal tip, Bifid ... OMIM:239800
Jacobsen Syndrome
U-Shaped upper lip vermilion, Short nose, Microphthalmia, Hydrocephalus, Anteverted nares, Microc... OMIM:147791
Warburg Micro Syndrome 1
Thin vermilion border, Microphthalmia, Enlarged sylvian cistern, Anteverted nares, Microcornea, N... OMIM:600118
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Hypotelorism, Cutaneous photosensitivity, Meckel diverticulum, Trigonocephaly, Py... OMIM:616395
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Abnormal calvaria morphology, Microcornea, Corneal opacity, Median cleft palate ORPHA:2432
Galactosemia Ii
Cataract OMIM:230200
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Microphthalmia, Hydrocephalus, Abnormality iris morphology, Coloboma, Op... ORPHA:370959
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Basel-Vanagaite-Smirin-Yosef Syndrome
Retrognathia, High, narrow palate, Microphthalmia, Short philtrum, Anteverted nares, Prominent na... ORPHA:464738
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, Retrognathia, Microphthalmia, Microcornea, Narrow mouth, High palate, Cataract ORPHA:2528
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Joubert Syndrome 14
Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Short philtrum, Coloboma, Dandy-Walker... OMIM:614424
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Respiratory distress ORPHA:171703
Cranioectodermal Dysplasia
Hypotelorism, Prominent occiput, Anteverted nares, Abnormal dental enamel morphology, Everted low... ORPHA:1515
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Brachycephaly, Long philtrum, Tented upper lip vermilion, Lateral ventricle dilatation OMIM:619972
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Microphthalmia, Mandibular prognathia, Umbilical hernia, Micrognathia, Lens colobom... OMIM:618914
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Micrognathia, Holoprosencephaly, Intrauterine growth retardation, Deeply set eye ORPHA:2570
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypotelorism, High palate, Ventriculomegaly, Wide nasal bridge, Depressed nasal bridge OMIM:615760
Galactosemia Iv
Cataract OMIM:618881
Joubert Syndrome 3
Central apnea, Anteverted nares, Enlarged fossa interpeduncularis, Open mouth, Lateral ventricle ... OMIM:608629
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Low hanging columella, Anteverted nares, Dilated fourth ventricle, Umbilical herni... OMIM:617751
Trigonocephaly 1
Short nose, High, narrow palate, Hypotelorism, Meckel diverticulum, Trigonocephaly, Long philtrum... OMIM:190440
Paganini-Miozzo Syndrome
Thin vermilion border, Mandibular prognathia, Downturned corners of mouth, Malar flattening, Late... OMIM:301025
2Q23.1 Microduplication Syndrome
Astigmatism, Hypotelorism, Dental crowding, Prominent nasal tip, Abnormality of the dentition, Wi... ORPHA:313947
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Wide nose, Intrauterine growth retardation, Hypertelorism,... ORPHA:488635
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Abnormal zygomatic bone morphology, Hypotelorism, Narrow nasal bridge, Mandibular ... ORPHA:2511
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachycephaly, Long nose, Wide nose, Low insertion of columella, High palate, Broad nasal tip, La... OMIM:619995
Temtamy Syndrome
Microphthalmia, Dental crowding, Lens luxation, Frontal bossing, Hypoplasia of teeth, Ectopia len... OMIM:218340
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Lateral ventricle dilatation ORPHA:77299
Biemond Syndrome Type 2
Hydrocephalus, Coloboma, Microphthalmia ORPHA:141333
Cofs Syndrome
Microphthalmia, Cutaneous photosensitivity, Everted lower lip vermilion, Intrauterine growth reta... ORPHA:1466
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Acrofacial Dysostosis, Catania Type
Tessier cleft, Short nose, Abnormal palate morphology, Spina bifida occulta, Abnormality of the d... ORPHA:1786
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
49,Xxxxy Syndrome
Brachycephaly, Wide nose, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:96264
Supernumerary Nostril
Tessier cleft, Abnormality of ethmoid sinus, Microcornea, Choanal atresia, Developmental cataract... ORPHA:141096
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypotelorism, Downturned corners of mouth, Prominent nasal bridge, Thick vermilion border, Ventri... OMIM:618974
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Brachycephaly, Plagiocephaly, Astigmatism, Short philtrum, Dental crowding, Dilated third ventric... OMIM:617296
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Short philtrum, Cloverleaf skull, Frontal bossing, Downturned corners of mouth, M... ORPHA:93267
Craniotelencephalic Dysplasia
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Frontal bossing, Agenesis of corpus callosu... ORPHA:1528
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypotelorism, Short philtrum, Cleft upper lip, Downturned corners of mouth, Smooth philtrum, Hype... OMIM:613192
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Brachycephaly, Long philtrum, Astigmatism, Hypotelorism, Respiratory distress, Dandy-Walker malfo... OMIM:300968
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Death in childhood, High palate, Umbilical hernia, Micrognathia, Col... OMIM:618651
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Congenital Disorder Of Glycosylation, Type Iig
Anteverted nares, High palate, Glossoptosis, Proptosis, Narrow mouth, Intrauterine growth retarda... OMIM:611209
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly OMIM:619033
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Brachycephaly, Microphthalmia, Encephalocele, Conical tooth, Anteverted nares, Underdeveloped nas... ORPHA:228390
Baraitser-Winter Syndrome 1
Short nose, Orofacial cleft, Iris coloboma, Microphthalmia, Retrognathia, Anteverted nares, Trigo... OMIM:243310
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Hyperautofluorescent retinal lesi... OMIM:618613
Amyotrophy, Hereditary Neuralgic
Hypotelorism, Long nasal bridge, Narrow mouth, Cleft palate, Deeply set eye, Depressed nasal bridge OMIM:162100
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Cataract, Retinal degeneration, Rod-... OMIM:204200
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Intellectual Developmental Disorder, Autosomal Recessive 5
Hypotelorism, Short philtrum, Thick upper lip vermilion, Prominent nasal bridge, Smooth philtrum,... OMIM:611091
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Lateral ventricle dilatation OMIM:616816
Pde4D Haploinsufficiency Syndrome
Brachycephaly, Short nose, Long philtrum, Hypotelorism, Short philtrum, Abnormal dental enamel mo... ORPHA:439822
Trisomy 18P
Thin vermilion border, High, narrow palate, Hypotelorism, Narrow mouth, Pyloric stenosis, Microgn... ORPHA:1715
Pierpont Syndrome
Brachycephaly, Short nose, Thin vermilion border, Widely spaced teeth, Microphthalmia, Wide nose,... OMIM:602342
Bresek Syndrome
Plagiocephaly, Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Clef... ORPHA:85284
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Tented upper lip vermilion, L... OMIM:620075
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Hartsfield Syndrome
Semilobar holoprosencephaly, Hypotelorism, Wide nose, Alobar holoprosencephaly, Hypoplasia of the... OMIM:615465
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Cleft soft palate, Short philtrum, Prominent nasal tip, Choroid plexus cyst, Thick ... ORPHA:293725
Intellectual Disability And Myopathy Syndrome
Hypotelorism, Incisor macrodontia, Cutis marmorata, Broad nasal tip, Dental malocclusion, Thin up... OMIM:619719
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Short nose, Hypotelorism, Wide nose, Short philtrum, Anteverted nares, Oligodontia, Narrow mouth,... ORPHA:391408
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intestinal polyposis, Wide nose, Stomach cancer, Dandy-Walker malformation, Corne... ORPHA:1052
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Micrognathia, Lateral ventricle dilatation, Ventriculomegaly, Central apnea OMIM:618291
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Cataract, Meningocele ORPHA:588
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Dandy-Walker malformation, Dilated fourth ventricle, Micrognathia, Lateral ventricle ... ORPHA:3078
Holoprosencephaly 4
Semilobar holoprosencephaly, Hypotelorism, Median cleft palate, Depressed nasal tip, Absent nasal... OMIM:142946
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Short nose, Astigmatism, Wide anterior fontanel, High palate, Pyloric stenosis, Fr... ORPHA:457279
Hadziselimovic Syndrome
Thick lower lip vermilion, Hypotelorism, Anteverted nares, High palate, Anal atresia, Prominent n... OMIM:612946
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Dental crowding, Mandibular condyle hypoplasia, Temp... OMIM:614669
Intellectual Developmental Disorder, Autosomal Dominant 7
Thick lower lip vermilion, Hypotelorism, Micrognathia, Smooth philtrum, Intrauterine growth retar... OMIM:614104
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Death in childhood, Tented upper lip vermilion, Lateral ventricle dilatation, Partial agenesis of... OMIM:619517
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Anophthalmia, Anteverted nares, Everted lower lip vermilion, Prominent nasal brid... ORPHA:411986
Lissencephaly 4
Colpocephaly, Wide nasal bridge, Agenesis of corpus callosum OMIM:614019
Vici Syndrome
Hypotelorism, High palate, Depressed nasal tip, Death in infancy, Agenesis of corpus callosum, Ca... ORPHA:1493
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Brachycephaly, Long philtrum, Short philtrum, High palate, Dilated third ventricle, Tented upper ... OMIM:619244
10Q22.3Q23.3 Microduplication Syndrome
Hypotelorism, Abnormality of the philtrum, Abnormality of the dentition, Microretrognathia, Deepl... ORPHA:276422
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Hypotelorism, Wide nasal bridge ORPHA:3366
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Cutis marmorata, Smooth philtrum, Ventriculomegaly, Hypertelorism,... OMIM:602501
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Retrognathia, Cyanosis, Anteverted nares, Decreased calv... OMIM:619879
Coach Syndrome 2
Hydrocephalus, Coloboma, Chorioretinal coloboma, Agenesis of corpus callosum, Apneic episodes in ... OMIM:619111
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Frontal bossing, Micrognathia, Apnea, Lateral ventricle dilatation OMIM:600721
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Brachycephaly, Tessier cleft, Abnormal palate morphology, Microphthalmia, Mandibular prognathia, ... ORPHA:1236
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Death in infancy OMIM:617668
Isolated Exencephaly
Abnormal facial skeleton morphology, Abnormal calvaria morphology, Hypoplasia of the frontal bone... ORPHA:563612
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Plagiocephaly, Short nose, Hydrocephalus, Exaggerated cupid's bow, High palate, Intrauterine grow... OMIM:619833
Fraser Syndrome 1
Dental crowding, Corneal opacity, Myelomeningocele, Abnormality of the anus, Abnormal small intes... OMIM:219000
Premature Aging Syndrome, Penttinen Type
Retrognathia, Microphthalmia, Proptosis, Corneal opacity, Shallow orbits, Aplasia of the nasal bo... OMIM:601812
Short Stature-Micrognathia Syndrome
Retrognathia, Astigmatism, Hypotelorism, High palate, Micrognathia, Cleft palate, Cataract, Intra... OMIM:617164
Cataract 47
Cataract, Microcornea OMIM:612018
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Cutis Laxa, Autosomal Recessive, Type Iiia
Brachycephaly, Corneal arcus, Hypotelorism, Narrow nasal ridge, Prominent superficial blood vesse... OMIM:219150
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Mosaic Trisomy 1
Orofacial cleft, Microphthalmia, Thick lower lip vermilion, Short upper lip, Frontal bossing, Cle... ORPHA:1692
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Retrognathia, Bilateral microphthalmos, Hypotelorism, Optic nerve hypoplasia, Proptosis, Narrow m... ORPHA:468631
Aicardi Syndrome
Microphthalmia, Anteverted nares, Dandy-Walker malformation, Choroid plexus cyst, Dilated third v... OMIM:304050
Ring Chromosome 7 Syndrome
Brachycephaly, Plagiocephaly, Short nose, Thin vermilion border, Hypotelorism, Short philtrum, An... ORPHA:1449
Steinfeld Syndrome
Microphthalmia, Iris coloboma, Median cleft palate, Retinal coloboma, Bifid uvula, Holoprosenceph... OMIM:184705
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Smith-Lemli-Opitz Syndrome
Proptosis, Tooth agenesis, Cutis marmorata, Wide mouth, Long philtrum, Ventriculomegaly, Intraute... ORPHA:818
Tetrasomy 5P
Short nose, Cyanosis, Respiratory distress, Hydrocephalus, Anteverted nares, Wide anterior fontan... ORPHA:3309
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal calvaria morphology, Wide nose, Prominent occiput, Respiratory distress, Dolichocephaly,... ORPHA:89844
Keppen-Lubinsky Syndrome
Short philtrum, Narrow nasal bridge, Abnormally large globe, Gingival overgrowth, High palate, Pr... OMIM:614098
Nathalie Syndrome
Cataract OMIM:255990
Craniosynostosis 2
Brachycephaly, Supernumerary tooth, Turricephaly, Hypotelorism, Unicoronal synostosis, Cleft soft... OMIM:604757
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Hypotelorism, Respiratory distress, High palate, Trigonocephaly, Micrognathia, Dental... ORPHA:329178
Meckel Syndrome
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dandy-Walker malformatio... ORPHA:564
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum ORPHA:2182
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Beare-Stevenson Cutis Gyrata Syndrome
Proptosis, Bifid uvula, Ventriculomegaly, Craniosynostosis, Narrow palate, Hydrocephalus, Antever... OMIM:123790
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Turricephaly, Respiratory distress, Hydrocephalus, Anteverted nares, Cloverleaf sk... ORPHA:1555
X-Linked Intellectual Disability, Wilson Type
Brachycephaly, Mandibular prognathia, Wide mouth, Thick vermilion border, Lateral ventricle dilat... ORPHA:85290
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Lateral ventricle dilatation OMIM:618890
Monosomy 13Q14
Microphthalmia, Intrauterine growth retardation, Trigonocephaly, Micrognathia, Prominent nasal br... ORPHA:1587
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Frontal bossing, Downturned corners of mouth,... OMIM:618779
Hypotelorism, Agenesis of corpus callosum OMIM:231950
Leber Congenital Amaurosis 1
Keratoconus, Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P... OMIM:204000
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Semilobar holoprosencephaly, Hypotelorism, Prominent occiput, High palate, Lobar holoprosencephal... OMIM:618500
Temtamy Syndrome
Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Micrognathia, Dolichocepha... ORPHA:1777
Oculodentodigital Dysplasia
Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Taurodontia, Cranial hyperostosis, Abnor... ORPHA:2710
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Brachycephaly, Short nose, Microphthalmia, Anteverted nares, Wide anterior fontanel, High palate,... ORPHA:163649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Hydrocephalus, Coloboma, Agenesis of corpus callosum, Cat... OMIM:615249
Verheij Syndrome
Short nose, Retrognathia, Anteverted nares, Coloboma, Optic nerve hypoplasia, Branchial cyst, Int... OMIM:615583
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Coloboma, Microcornea, Cleft palate, Catara... OMIM:610125
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele, Dandy-Walker malformation, Dilated third ventricle, Frontal... ORPHA:397715
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Asteroid hyalosis, Cysto... OMIM:618173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Coloboma, Dandy-W... OMIM:236670
Cach Syndrome
Cataract, T2 hypointense thalamus, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:135
Vitamin K Antagonist Embryofetopathy
Short nose, Hydrocephalus, Anteverted nares, Proptosis, Choanal atresia, Myelomeningocele, Intrau... ORPHA:1914
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
15Q24 Microdeletion Syndrome
Abnormal palate morphology, Decreased response to growth hormone stimulation test, Thick lower li... ORPHA:94065
Orofaciodigital Syndrome Xix
Retrognathia, Bifid nasal tip, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palat... OMIM:620107
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Anteverted nares, Coloboma, Enamel hypoplasia, L... OMIM:166750
Baller-Gerold Syndrome
Brachycephaly, Short nose, Hypotelorism, Narrow nasal bridge, High palate, Brachyturricephaly, An... ORPHA:1225
Microphthalmia With Limb Anomalies
Short nose, Microphthalmia, Retrognathia, Anophthalmia, Flared nostrils, High palate, Frontal bos... OMIM:206920
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma OMIM:610023
Meckel Syndrome, Type 1
Occipital encephalocele, Microphthalmia, Anencephaly, Intestinal malrotation, Wide mouth, Intraut... OMIM:249000
Schilbach-Rott Syndrome
Long nose, Hypotelorism, Narrow mouth, Micrognathia, Bifid uvula, Prominent nose, Submucous cleft... OMIM:164220
16P11.2P12.2 Microdeletion Syndrome
Long nose, Short nose, Orofacial cleft, Hypotelorism, Anteverted nares, Frontal bossing, Open mou... ORPHA:261211
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Retinal atrophy, Posterior synechiae of the anterior chamber OMIM:616722
Retrognathia, High, narrow palate, Astigmatism, Hypotelorism, Bilateral microphthalmos, Cutaneous... ORPHA:33364
Otodental Syndrome
Microphthalmia, Odontoma, Long philtrum, Taurodontia, Agenesis of premolar, Anteverted nares, Car... ORPHA:2791
Isolated Arrhinia
Tessier cleft, Midline defect of the nose, Microphthalmia, Respiratory distress, Aplasia/Hypoplas... ORPHA:1134
Intellectual Developmental Disorder, Autosomal Dominant 56
High palate, Open mouth, Lateral ventricle dilatation, Long philtrum, Thin upper lip vermilion OMIM:617854
Weyers Ulnar Ray/Oligodactyly Syndrome
Solitary median maxillary central incisor, Hypotelorism, High palate, Cleft upper lip, Micrognath... OMIM:602418
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Advanced eruption of teeth, Hypotelorism, Broad alveolar ridges, Exaggerated cupid... ORPHA:2215
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Astigmatism, Low hanging columella, Coloboma, Exaggerated cupid's bow, Narrow mouth, Micrognathia... OMIM:618659
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Pfeiffer Syndrome Type 2
Short nose, Aqueductal stenosis, Respiratory distress, Hydrocephalus, Cloverleaf skull, High pala... ORPHA:93259
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Harrod Syndrome
Long nose, Hypotelorism, Narrow mouth, High palate, Cataract, Dental malocclusion, Intrauterine g... ORPHA:2115
Pyruvate Dehydrogenase E1-Alpha Deficiency
Agenesis of corpus callosum, Lateral ventricle dilatation, Intrauterine growth retardation, Ventr... ORPHA:79243
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cerebrooculofacioskeletal Syndrome 1
Long philtrum, Thin vermilion border, Microphthalmia, Death in childhood, Delayed eruption of tee... OMIM:214150
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Brachycephaly, Plagiocephaly, Aqueductal stenosis, Hypotelorism, Short philtrum, Low hanging colu... OMIM:619512
Microphthalmia, Iris coloboma, Encephalocele, Midline nasal groove, Hypoplastic frontal sinuses, ... ORPHA:391474
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Hypotelorism, Short philtrum, Ventriculomegaly, Anteverted nares, Cleft lip, Umbilica... OMIM:618454
Pallister-Hall Syndrome
Short nose, Microphthalmia, Decreased response to growth hormone stimulation test, Anteverted nar... OMIM:146510
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Coloboma, Microcornea, Cleft palate, Chorioretinal coloboma, Malar fl... ORPHA:921
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Plagiocephaly, Normal pressure hydrocephalus, Optic nerve hypoplasia, Abnormal thalamus morpholog... ORPHA:300570
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Retrognathia, Premature skin wrinkling, High palate, Intrauterine growth retardation, Lateral ven... ORPHA:263487
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retrognathia, Microphthalmia, Death in childhood, Encephalocele, Hydrocephalus, Optic nerve hypop... OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Encephalocele, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Cat... OMIM:253800
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Plagiocephaly, Hypotelorism, Holoprosencephaly, Craniosynostosis ORPHA:2163
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypotelorism, Oligodontia, Narrow mouth, Downturned corners of mouth, Micrognathia, Intrauterine ... OMIM:616817
Frontofacionasal Dysplasia
Brachycephaly, Short nose, Midline defect of the nose, Orofacial cleft, Microphthalmia, Hypoplasi... OMIM:229400
Amish Lethal Microcephaly
Cleft soft palate, Spina bifida, Death in infancy, Micrognathia, Agenesis of corpus callosum, Ven... ORPHA:99742
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Weyers Acrofacial Dysostosis
Hypotelorism, Solitary median maxillary central incisor, Conical tooth OMIM:193530
Vici Syndrome
Everted upper lip vermilion, Hypotelorism, Wide nose, High palate, Median cleft palate, Cataract,... OMIM:242840
Branchio-Oculo-Facial Syndrome
Premature graying of hair, Orofacial cleft, Non-midline cleft of the upper lip, Coloboma, Microco... ORPHA:1297
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Galloway-Mowat Syndrome
Aqueductal stenosis, Hypotelorism, Abnormality of the dentition, Micrognathia, Intrauterine growt... ORPHA:2065
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Anencephaly, Trigonocephaly, Advanced eruption of teeth, Encephalocele, Short phi... OMIM:619148
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Hypotelorism, Peters anomaly, Anteverted nares, Broad alveolar ridges, Coloboma, ... OMIM:616975
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Death in childhood, Cutaneous photosensitivity, Cataract, Micrognathia, Developme... OMIM:610756
Cockayne Syndrome Type 2
Progeroid facial appearance, Hypoplasia of the primary teeth, Anophthalmia, Mandibular prognathia... ORPHA:90322
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Hypotelorism, Short philtrum, Mandibular prognathia, Frontal bossing, Prominent nose, ... OMIM:300486
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Single naris, Tooth malposition, Hyposmia, Anophthalmia, Anosmia, Submucous cleft... ORPHA:2250
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Proptosis, Wide mouth, Umbilical hernia, Long philtrum, Triangular mouth, Anteve... OMIM:616331
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Short philtrum, Anterior polar cataract, Hydrocephalus, Dilated third ventri... OMIM:619575
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
High palate, Hypotelorism OMIM:616281
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Microphthalmia, Short philtrum, Hydrocephalus, Depressed nasal ridge, Death in infanc... ORPHA:163966
Short-Rib Thoracic Dysplasia 12
Anencephaly, Hydrocephalus, Median cleft palate, Intestinal malrotation, Natal tooth, Lobulated t... OMIM:269860
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Retrognathia, Vascular skin abnormality, Dilated third ventricle, Lat... ORPHA:544488
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Microphthalmia, Astigmatism, Cataract, Retinal coloboma, Frontal bossing, Hypertelori... OMIM:618571
Ring Chromosome 21 Syndrome
Holoprosencephaly, Cutaneous photosensitivity ORPHA:1445
Wars2-Related Combined Oxidative Phosphorylation Defect
High palate, Dilated fourth ventricle, Lateral ventricle dilatation, Intrauterine growth retardat... ORPHA:572798
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Wide nasal bridge OMIM:614870
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism, Abnormal calvaria morphology ORPHA:1952
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613581
Koolen-De Vries Syndrome
Narrow palate, Widely spaced teeth, Hypotelorism, Pear-shaped nose, High palate, Everted lower li... OMIM:610443
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Acrofacial Dysostosis, Weyers Type
Tessier cleft, Advanced eruption of teeth, Solitary median maxillary central incisor, Conical too... ORPHA:952
Tetraamelia-Multiple Malformations Syndrome
Orofacial cleft, Microphthalmia, Hydrocephalus, Microcornea, Narrow mouth, Anal atresia, Septo-op... ORPHA:3301
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Coloboma, Hypoplasia of the maxilla, Conjunctival hyperemia, Dolichocephaly, Hype... OMIM:167730
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Acrocallosal Syndrome
Everted upper lip vermilion, Prominent occiput, Abnormal oral frenulum morphology, Bifid uvula, W... OMIM:200990
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Frontal bossing, Downturned corners of mouth, Hypotelorism OMIM:618718
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Short philtrum, Respiratory distress, Micrognathia, Intrauterine growth re... ORPHA:261304
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Hydranencephaly, Hydrocephalus, Anteverted nares, Mandibular prognathia, High pala... OMIM:620371
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly, Astigmatism, Hypotelorism, Downturned corners of mouth, Broad nasal tip, Submucous... OMIM:619680
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Ileal atresia, Short nose, Astigmatism, Aplasia of the nasal bone, Ac... OMIM:618820
Vacterl With Hydrocephalus
Aqueductal stenosis, Microphthalmia, Retrognathia, Esophageal atresia, Anophthalmia, Hydrocephalu... ORPHA:3412
Noonan Syndrome 14
High, narrow palate, Prominent nasal bridge, Wide mouth, Lateral ventricle dilatation, Thick verm... OMIM:619745
Trichothiodystrophy 8, Nonphotosensitive
Long philtrum, Retrognathia, Hypotelorism, Prominent nose, Thin upper lip vermilion OMIM:619691
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypotelorism, Short philtrum, Low hanging columella, High palate, Micrognathia, Wide mouth, Thick... OMIM:300986
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Joubert Syndrome 16
Dandy-Walker malformation, Coloboma, Hypertelorism, Encephalocele OMIM:614465
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Premature skin wrinkling, Microcornea, Mandibular prognathia, Cl... OMIM:601349
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Microphthalmia OMIM:614830
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Coloboma, Apnea OMIM:616490
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Chorioretinal coloboma, Intrauterine growth retardation, Hypertelor... ORPHA:195
Sandestig-Stefanova Syndrome
Orofacial cleft, Microphthalmia, Retrognathia, High palate, Trigonocephaly, Developmental catarac... OMIM:618804
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905