Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Solitary Median Maxillary Central Incisor
Hypotelorism, Pyriform aperture stenosis, Anophthalmia, Cleft upper lip, Solitary median maxillar... OMIM:147250
Holoprosencephaly 5
Central diabetes insipidus, Hypotelorism, High palate, Semilobar holoprosencephaly, Trigonocephal... OMIM:609637
Holoprosencephaly 3
Central diabetes insipidus, Hypotelorism, Single naris, Bifid uvula, Solitary median maxillary ce... OMIM:142945
Cerebrooculonasal Syndrome
High palate, Hypoplasia of the corpus callosum, Anophthalmia, Solitary median maxillary central i... OMIM:605627
Microform Holoprosencephaly
Hypotelorism, Short philtrum, Solitary median maxillary central incisor, Agenesis of corpus callo... ORPHA:280200
Frontofacionasal Dysplasia
Bifid nasal tip, Depressed nasal ridge, Non-midline cleft lip, Microcornea, Cataract, Dimple on n... ORPHA:1791
Holoprosencephaly 2
Hypotelorism, Bifid uvula, Solitary median maxillary central incisor, Agenesis of corpus callosum... OMIM:157170
Proboscis Lateralis
Abnormal corpus callosum morphology, Long philtrum, Abnormal paranasal sinus morphology, Optic ne... ORPHA:141099
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Oral cleft, Bilateral microphthalmos, Holop... OMIM:611638
Chromosome 1Q41-Q42 Deletion Syndrome
Deeply set eye, Hypotelorism, Cleft upper lip, Microphthalmia, Microcephaly, Depressed nasal brid... OMIM:612530
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Absent nares, Agenesis of corpus callosum, Aplasia/Hypoplasia involving the nose, M... ORPHA:990
Hartsfield Syndrome
Craniosynostosis, Intrauterine growth retardation, Non-midline cleft lip, Aplasia/Hypoplasia of t... ORPHA:2117
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Holoprosencephaly, Microcephaly, Cyclopia, Hypertelorism, Propto... ORPHA:2165
Triopia
Dolichocephaly, Microcornea, Midline facial cleft, Abnormality of the fontanelles or cranial sutu... ORPHA:3374
Trisomy 18
Prominent occiput, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spina bifida, Cleft p... ORPHA:3380
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Depressed nasal ridge, Gingival fibromatosis, Respiratory failur... ORPHA:1832
Polyrrhinia
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormality of the external ... ORPHA:141091
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Occipital encephalocele, Ventriculomegaly, Ocular anterior segment dysgen... ORPHA:324416
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplastic frontal sinuses, Median cleft palate, Agenesis of corpus callosum, C... OMIM:136760
Triploidy
Narrow mouth, Intrauterine growth retardation, Non-midline cleft lip, Aplasia/Hypoplasia of the c... ORPHA:3376
16P13.11 Microdeletion Syndrome
Cleft upper lip, Agenesis of corpus callosum, Thin upper lip vermilion, Exaggerated cupid's bow, ... ORPHA:261236
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypotelorism, High palate, Short philtrum, Prematurely aged appearance, Cataract, Everted lower l... ORPHA:1387
Holoprosencephaly
Panhypopituitarism, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Dandy-Walker malform... ORPHA:2162
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft lip, Choanal atresia, Spina bifida, Bilateral cleft lip and palat... ORPHA:1104
Cutis Laxa, Autosomal Recessive, Type Iib
Deeply set eye, Hypotelorism, Narrow nasal ridge, Agenesis of corpus callosum, Intrauterine growt... OMIM:612940
Congenital Disorder Of Glycosylation, Type Iu
Hypotelorism, High palate, Cerebral white matter atrophy, Micrognathia, Respiratory distress, Sec... OMIM:615042
Holoprosencephaly 7
Hypoplasia of the premaxilla, Panhypopituitarism, Midline defect of the nose, Median cleft lip an... OMIM:610828
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Agenesis of corpus callosum, Meckel diverticulum, Hydrocephalus, Apnea, D... OMIM:300864
Holoprosencephaly 1
Hypotelorism, Agenesis of corpus callosum, Ethmocephaly, Aplasia of the nose, Microphthalmia, Mic... OMIM:236100
Craniotelencephalic Dysplasia
Hypotelorism, Craniosynostosis, Agenesis of corpus callosum, Optic nerve hypoplasia, Frontal ence... OMIM:218670
Acalvaria
Hypertelorism, Spina bifida, Hydrocephalus, Holoprosencephaly, Cleft palate, Calvarial skull defect ORPHA:945
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus callosum, So... OMIM:301043
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Coloboma, Bilateral cleft lip and palate, Anterior encephalocele, Absent septum ... OMIM:601357
Hydrolethalus
Deeply set eye, Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Anencephaly, Unilateral c... ORPHA:2189
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Hypotelorism, Absent nares, Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the... ORPHA:2166
Pseudotrisomy 13 Syndrome
Hypotelorism, Cleft upper lip, Agenesis of corpus callosum, Holoprosencephaly, Anal atresia, Micr... OMIM:264480
Holoprosencephaly 11
Hypotelorism, Agenesis of corpus callosum, Cleft lip, Microcephaly, Holoprosencephaly, Proptosis,... OMIM:614226
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Anencephaly, Aplasia/Hypoplasia aff... ORPHA:1590
Aminopterin/Methotrexate Embryofetopathy
Intrauterine growth retardation, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum... ORPHA:1908
Chromosome 3Q13.31 Deletion Syndrome
High palate, Short philtrum, Plagiocephaly, Agenesis of corpus callosum, Dolichocephaly, Ventricu... OMIM:615433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cataract, Corneal opacity, Ventriculomegaly, Death in childhood, Microphthalmia, Coloboma... OMIM:613153
Alobar Holoprosencephaly
Bifid uvula, Panhypopituitarism, Abnormal morphology of the olfactory bulb, Abnormal pattern of r... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Panhypopituitarism, Abnormal morphology of the olfactory bulb, Abnormal pattern of r... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Panhypopituitarism, Abnormal morphology of the olfactory bulb, Abnormal pattern of r... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Panhypopituitarism, Abnormal morphology of the olfactory bulb, Abnormal pattern of r... ORPHA:220386
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Anencephaly, Bifid nose, M... OMIM:619452
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Depressed nasal ridge, Microphthalmia, Microcephaly, Short nose, C... OMIM:613885
Developmental And Epileptic Encephalopathy 87
Hypotelorism, Cerebral atrophy, High palate, Bulbous nose, Widely spaced teeth, U-Shaped upper li... OMIM:618916
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect, Bilateral cleft lip and palate, Facial cleft OMIM:600776
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Abnormality of the diencephalon, Intrauterine growth retardation, Aplasia/Hypopla... ORPHA:2570
Baraitser-Winter Syndrome 2
Trigonocephaly, Agenesis of corpus callosum, Long philtrum, Ventriculomegaly, Microphthalmia, Col... OMIM:614583
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Cleft ala nasi, Microphthalmia, Dandy-Walker malformat... OMIM:164180
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Hypotelorism, High palate, Metopic suture patent to nasal root, Multiple suture craniosynostosis,... ORPHA:3369
2Q24 Microdeletion Syndrome
Short philtrum, Cataract, Microphthalmia, Coloboma, Central apnea, Abnormal oral frenulum morphol... ORPHA:1617
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Cataract, Wide nasal bridge, Microcephaly, Abnorm... ORPHA:79326
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Intrauterine growth retardation, Cyanotic episode, Micrognathia, Primary microc... ORPHA:284417
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Deeply set eye, Hypotelorism, Short philtrum, Prominent occiput, Plagiocephaly, Dolichocephaly, D... OMIM:618672
Pontocerebellar Hypoplasia, Type 13
High palate, Short philtrum, Anteverted nares, Macrodontia, Asthma, Hypoplastic hippocampus, Slee... OMIM:618606
Monosomy 18P
Short philtrum, Hypodontia, Carious teeth, Wide nasal bridge, Micrognathia, Microphthalmia, Micro... ORPHA:1598
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lambdoidal craniosynostosis, Agenesis of corpus callosum, Delayed closure of the anterior fontane... OMIM:618736
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Hypotelorism, Skull asymmetry, Anteverted nares, Long philtrum, Cutis marmorata, Velopharyngeal i... OMIM:614701
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypotelorism, Short philtrum, Hypoplasia of the corpus callosum, Cleft upper lip, Wide nasal brid... OMIM:613192
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Intrauterine growth retardation, Microcornea, Cataract, Micrognathia, Microphth... OMIM:616171
Glutamine Deficiency, Congenital
Anteverted nares, Neonatal death, Wide nasal bridge, Erythema, Depressed nasal bridge, Hypoplasia... OMIM:610015
Non-Distal Trisomy 13Q
Hypotelorism, High palate, Long philtrum, Everted lower lip vermilion, Aplasia/Hypoplasia affecti... ORPHA:1702
Richieri-Costa/Guion-Almeida Syndrome
Deeply set eye, Hypotelorism, Cleft upper lip, Palmoplantar cutis laxa, Microcephaly, Malar flatt... OMIM:268850
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Depressed nasal ridge, Optic nerve hypoplasia, High, na... OMIM:607597
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Corneal opacity, Facial cleft, Ventriculomegaly, Dandy... ORPHA:1647
Cofs Syndrome
Cerebral calcification, Intrauterine growth retardation, Cataract, Everted lower lip vermilion, W... ORPHA:1466
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Microcephaly, Holoprosencephaly, Intrauterine growth retardation OMIM:306990
Malan Overgrowth Syndrome
Deeply set eye, Narrow mouth, High palate, Plagiocephaly, Ventriculomegaly, Optic disc hypoplasia... ORPHA:420179
Lambotte Syndrome
Narrow mouth, Semilobar holoprosencephaly, Intrauterine growth retardation, Convex nasal ridge, O... OMIM:245552
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Cutaneous photosensitivity, Micrognathia, Microphthalmia, Microc... OMIM:616570
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Bulbous nose, Small cerebral cortex, Ventriculomegaly, ... ORPHA:2185
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Treacher-Collins Syndrome
Open bite, Micrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Cleft palate, Encephaloc... ORPHA:861
Frontonasal Dysplasia 3
Underdeveloped nasal alae, Wide nasal bridge, Microphthalmia, Brachycephaly, Hypertelorism, Cleft... OMIM:613456
Distal Monosomy 7Q36
Bulbous nose, Non-midline cleft lip, Abnormality of calvarial morphology, Micrognathia, Microceph... ORPHA:1636
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypotelorism, Aplasia of the nose, Microphthalmia, Microcephaly, Oral cleft, Cyclopia, Holoprosen... ORPHA:3186
Chromosome 5P13 Duplication Syndrome
Hypotelorism, High palate, Short philtrum, Craniosynostosis, Agenesis of corpus callosum, Bulbous... OMIM:613174
Walker-Warburg Syndrome
Abnormal cortical gyration, Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Microcornea, ... ORPHA:899
Holoprosencephaly 9
Abnormal cortical gyration, Hypoplasia of the premaxilla, Panhypopituitarism, Optic nerve hypopla... OMIM:610829
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Hypotelorism, Dysplastic corpus callosum, Cleft upper lip, Depressed nasal ridge, Anterior hypopi... OMIM:601016
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypotelorism, Short philtrum, Bifid uvula, Intrauterine growth retardation, Progressive microceph... OMIM:618622
Intellectual Disability And Myopathy Syndrome
Hypotelorism, Broad nasal tip, Cutis marmorata, Sleep apnea, Widely-spaced maxillary central inci... OMIM:619719
Xk Aprosencephaly Syndrome
Narrow mouth, Hypotelorism, Anal atresia, Microphthalmia, Microcephaly, Abnormality of the nares ORPHA:3469
Pierpont Syndrome
Deeply set eye, Abnormal cortical gyration, Microcornea, Everted lower lip vermilion, Widely spac... ORPHA:487825
Mosaic Trisomy 9
Prominent occiput, Hypotelorism, High palate, Biparietal narrowing, Intrauterine growth retardati... ORPHA:99776
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Probst bundles, Intrauterine growth retardation, Agenesis of corpus callosum, Long p... OMIM:612863
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Broad nasal tip, Abnormality iris morphology, Underdeveloped nasal ... ORPHA:250999
Oculomaxillofacial Dysostosis
Underdeveloped nasal alae, Abnormality of the nose, Corneal opacity, Aplasia/Hypoplasia affecting... ORPHA:1794
Trisomy 1Q
Narrow mouth, Hypotelorism, Anophthalmia, Agenesis of corpus callosum, Ventriculomegaly, Anal atr... ORPHA:261344
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Microcornea, Cataract, Microphthalmia, Microcephaly, Brachycephaly, Re... ORPHA:2528
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Hypotelorism, High palate, Intrauterine growth retardation, Long philtrum, Microcephaly, Depresse... OMIM:618500
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Solitary median maxillary central incisor, Long philtrum, Microdontia,... ORPHA:66625
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Agenesis of corpus callosum, Tracheomalacia, Tracheoesophageal fistula, M... ORPHA:268249
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Aplasia/Hypoplasia of the frontal sinuses, Agenesis of corpus callosum, Underdeveloped nasal alae... ORPHA:306542
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Broad nasal tip, Cleft upper lip, Micrognathia, Microcephaly, Bifid nose, Hypertelo... OMIM:239800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hypotelorism, Unilateral cleft lip, Microcephaly, Narrow nasal bridge, Malar flattening, Large fo... ORPHA:2511
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Microcephaly, Holoprosencephaly, Cerebral cortical atrophy ORPHA:2523
Intellectual Developmental Disorder, Autosomal Recessive 5
Hypotelorism, Short philtrum, Underdeveloped nasal alae, Thick upper lip vermilion, Wide nasal br... OMIM:611091
Trisomy 13
Deeply set eye, Hypotelorism, Anophthalmia, Intrauterine growth retardation, Long philtrum, Catar... ORPHA:3378
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Anteverted nares, Polymicrogyria, Wide mouth OMIM:300982
Martsolf Syndrome 2
Broad nasal tip, Developmental cataract, Cataract, Microcephaly, Hypoplasia of the corpus callosu... OMIM:619420
Trigonocephaly With Short Stature And Developmental Delay
Broad alveolar ridges, Hypotelorism, High palate, Lambdoidal craniosynostosis, Small anterior fon... OMIM:314320
Bainbridge-Ropers Syndrome
Broad nasal tip, Underdeveloped nasal alae, Everted lower lip vermilion, Micrognathia, Metopic sy... OMIM:615485
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Hypotelorism, High palate, Intrauterine growth retardation, Astigmatism, Micrognathia, Microcepha... OMIM:617164
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Cloverleaf skull, Frontal bossing, Depressed nasal bridge, Hydrocephalus, Respi... ORPHA:93274
Warburg Micro Syndrome 1
Deeply set eye, Cerebral atrophy, Narrow mouth, Developmental cataract, Anteverted nares, Agenesi... OMIM:600118
Chromosome 6Q11-Q14 Deletion Syndrome
Hypotelorism, High palate, Broad nasal tip, Hypertelorism, Long philtrum, Thin upper lip vermilio... OMIM:613544
Tonne-Kalscheuer Syndrome
Narrow mouth, Hypotelorism, Velopharyngeal insufficiency, Wide nasal bridge, Micrognathia, Microc... OMIM:300978
6P22 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Abnormal palate morphology, Hydrocephalus ORPHA:251046
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Sclerocornea, Tracheoesophageal fistula, Esophageal at... ORPHA:77298
49,Xxxxy Syndrome
Delayed eruption of teeth, Open bite, Depressed nasal ridge, Asthma, Holoprosencephaly, Pulmonary... ORPHA:96264
Trisomy 18P
Narrow mouth, Hypotelorism, Intrauterine growth retardation, Underdeveloped nasal alae, Wide nasa... ORPHA:1715
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Agenesis of corpus callosum, Tracheomalacia, Micrognathia, Microglossia, ... OMIM:202650
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Intellectual Developmental Disorder, Autosomal Dominant 48
Anteverted nares, Dilated fourth ventricle, Open mouth, Microcephaly, Prominent nasal bridge, Pol... OMIM:617751
Joubert Syndrome 14
Deeply set eye, Short philtrum, Open mouth, Tented upper lip vermilion, Microphthalmia, Coloboma,... OMIM:614424
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Microcornea, Corneal opacity, Abnormality of the fontanelles or cranial sutu... ORPHA:2432
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Hypotelorism, Abnormality of the philtrum, Microcephaly, Microretrognathia, Abnor... ORPHA:276422
Basel-Vanagaite-Smirin-Yosef Syndrome
Developmental cataract, Everted lower lip vermilion, Tented upper lip vermilion, Exaggerated cupi... ORPHA:464738
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cutis marmorata, Cavum septum pellucidum, Ventriculomegaly, Microphthalmia, Depressed nasal bridg... OMIM:602501
Distal Monosomy 10Q
Astigmatism, Micrognathia, Microcephaly, Thin upper lip vermilion, Dilation of lateral ventricles... ORPHA:96148
Alkuraya-Kucinskas Syndrome
Hypotelorism, High palate, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Cataract, Ve... OMIM:617822
Prader-Willi Syndrome Due To Translocation
Broad nasal tip, Underdeveloped nasolabial fold, Bifid uvula, Everted lower lip vermilion, Microg... ORPHA:177907
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypotelorism, Ventriculomegaly, Depressed nasal bridge, Prominent nasal bridge, Hypoplasia of the... OMIM:618974
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Microglossia, Upper airway obstruction,... ORPHA:141152
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hypotelorism, High palate, Trigonocephaly, Progressive microcephaly, Deep philtrum, Cerebral whit... ORPHA:329178
Jacobsen Syndrome
Chorioretinal coloboma, Trigonocephaly, Intrauterine growth retardation, Microcornea, Holoprosenc... OMIM:147791
Hadziselimovic Syndrome
Hypotelorism, High palate, U-Shaped upper lip vermilion, Thick lower lip vermilion, Anal atresia,... OMIM:612946
Hypotonia, Infantile, With Psychomotor Retardation
Open mouth, Dilation of lateral ventricles, Respiratory insufficiency due to muscle weakness, Hyp... OMIM:616816
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Hypotelorism, Short philtrum, Intrauterine growth retardation, Long philtrum, Oligo... ORPHA:391408
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Microphthalmia, Coloboma, Microcephaly OMIM:274270
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal spaced incisors, Short philtrum, Broad nasal tip, Anophthalmia, Bulbous nose, Occipital ... ORPHA:411986
Alg13-Cdg
Hypertelorism, Anteverted nares, Long philtrum, Abnormal lateral ventricle morphology ORPHA:324422
Acrofacial Dysostosis, Catania Type
Abnormal palate morphology, Intrauterine growth retardation, Carious teeth, Tooth agenesis, Micro... ORPHA:1786
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Pierpont Syndrome
Deeply set eye, Broad nasal tip, Wide nose, Microcornea, Everted lower lip vermilion, Widely spac... OMIM:602342
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Tented upper lip vermilion, Death in childhood,... OMIM:619517
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Microcephaly, Polymicrogyria, Cortical dysplasia OMIM:615771
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Temtamy Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Dolichocephaly, Aplasia/Hypoplasia of the cor... ORPHA:1777
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Micrognathia, Microphthalmia, Cleft palate, Prominent nose OMIM:221950
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Microcephaly, Lissencephaly, Cortical dysplasia, Retrognathia, Narrow mou... ORPHA:468631
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, High palate, Anophthalmia, Agenesis of corpus callosum, Sclerocornea, Mic... ORPHA:139471
Intellectual Developmental Disorder, Autosomal Dominant 7
Deeply set eye, Hypotelorism, Intrauterine growth retardation, Bulbous nose, Thick lower lip verm... OMIM:614104
Ritscher-Schinzel Syndrome 1
Prominent occiput, Intrauterine growth retardation, Anal atresia, Micrognathia, Dandy-Walker malf... OMIM:220210
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypotelorism, High palate, Hypoplasia of the corpus callosum, Drooling, Microcephaly, Secondary m... OMIM:616281
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Primary microcephaly, Respiratory distress, Polymi... ORPHA:171703
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Agenesis of corpus callosum, Cataract, Wide nasal bridge, Micrognathia, Microphth... ORPHA:93267
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology, Depressed nasal bridge, H... ORPHA:488635
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Hypotelorism, Bifid uvula, Long philtrum, Bulbous nose, Cataract, Ast... OMIM:300968
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Hypotelorism, High palate, Solitary median maxillary central incisor... ORPHA:556955
D-2-Hydroxyglutaric Aciduria 1
Micrognathia, Frontal bossing, Inspiratory stridor, Apnea, Dilation of lateral ventricles, Multif... OMIM:600721
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Abnormal corpus callosum morphology, Plagiocephaly, Long philtrum, Dolichocephaly, C... ORPHA:457279
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Micrognathia, Lissencephaly, Type II lissencephaly, Small basal ganglia, ... ORPHA:300570
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Anteverted nares, Widely spaced teeth, Microcephaly, Respiratory distress, Hypo... OMIM:618006
Cranioectodermal Dysplasia
Prominent occiput, Hypotelorism, Craniosynostosis, Dolichocephaly, Hypodontia, Microdontia, Evert... ORPHA:1515
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, High palate, Short philtrum, Agenesis of corpus callosum, Long philtrum, Dilate... OMIM:619244
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Micrognathia, Microphthalmia, Lens coloboma, Retrognathia, Hypoplasia of the corpus callosum, Umb... OMIM:618914
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Deeply set eye, Cerebral atrophy, Short philtrum, Plagiocephaly, Dilated third ventricle, Astigma... OMIM:617296
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Intrau... ORPHA:79243
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Bilateral microphthalmos, Dilati... ORPHA:77299
Cerebrooculofacioskeletal Syndrome 1
Deeply set eye, Agenesis of corpus callosum, Long philtrum, Cataract, Micrognathia, Death in chil... OMIM:214150
Frontoocular Syndrome
Narrow mouth, Hypotelorism, Narrow philtrum, High palate, Coronal craniosynostosis, Micrognathia,... OMIM:605321
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Facial Clefting, Oblique, 1
Coloboma, Cleft upper lip, Cleft palate, Facial cleft OMIM:600251
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Abnormal palate morphology, Hypodontia, Microphthalmia, Microcephaly, Frontal bossing, Brachyceph... ORPHA:1236
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Occipital encephalocele, Cataract, Optic n... ORPHA:370959
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Trigonocephaly, Cleft upper lip, Agenesis of corpus callosum, Long philtr... OMIM:243310
2Q23.1 Microduplication Syndrome
Hypotelorism, Bulbous nose, Abnormality of the dentition, Astigmatism, Midface retrusion, Dental ... ORPHA:313947
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Apneic episodes in infancy, Small fontanelle, Dilat... ORPHA:3078
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Microcephaly, Coloboma, Diastema OMIM:300915
Monosomy 13Q14
Trigonocephaly, Intrauterine growth retardation, Holoprosencephaly, Cataract, Wide nasal bridge, ... ORPHA:1587
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Methylmalonate Semialdehyde Dehydrogenase Deficiency
High palate, Long philtrum, Bulbous nose, Cataract, Tented upper lip vermilion, Microphthalmia, M... OMIM:614105
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cataract, Microphthalmia, Coloboma, Cleft palate OMIM:120433
Developmental Delay With Or Without Dysmorphic Facies And Autism
Narrow nose, Micrognathia, Microcephaly, Thin upper lip vermilion, Cleft palate, Short nose, Hypo... OMIM:618454
Trichothiodystrophy 3, Photosensitive
Hypotelorism, Developmental cataract, Intrauterine growth retardation, Cataract, Carious teeth, C... OMIM:616395
Stromme Syndrome
Optic nerve hypoplasia, Micrognathia, Microcephaly, Cleft palate, Sclerocornea, Microcornea, Cata... OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Abnormally large globe, Cataract, ... OMIM:615249
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Prominent occiput, Agenesis of corpus callosum, Intrauterine growth retar... ORPHA:89844
Harrod Syndrome
Narrow mouth, Hypotelorism, High palate, Long nose, Intrauterine growth retardation, Cataract, Mi... ORPHA:2115
Holoprosencephaly, Recurrent Infections, And Monocytosis
Microcephaly, Holoprosencephaly, Agenesis of corpus callosum, Brachycephaly OMIM:610680
Ritscher-Schinzel Syndrome 4
Deeply set eye, Hypotelorism, High palate, Short philtrum, Plagiocephaly, Agenesis of corpus call... OMIM:619435
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Conical tooth, Underdeveloped nasal... ORPHA:228390
Craniosynostosis 2
Hypotelorism, Craniosynostosis, Cleft soft palate, Supernumerary tooth, Frontal bossing, Turricep... OMIM:604757
Trigonocephaly 1
Hypotelorism, Craniosynostosis, Meckel diverticulum, Microcephaly, Trigonocephaly OMIM:190440
Microcephaly, Autosomal Dominant
Microcephaly, Hypotelorism, Increased overbite OMIM:156580
Microphthalmia, Syndromic 12
Broad nasal tip, Anophthalmia, Wide nasal bridge, Micrognathia, Microphthalmia, Retrognathia OMIM:615524
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hypotelorism, Drooling, Microcephaly, Frontal bossing, Downturned corners of mouth OMIM:618718
Halperin-Birk Syndrome
Semilobar holoprosencephaly, High palate, Colpocephaly, Developmental cataract, Intrauterine grow... OMIM:618651
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Widely spaced teeth, Micrognathia, Microcephaly, Respiratory distress, Hypoplasia... OMIM:300934
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Abnormal caudate nucleus morphology, Broad columella, Choroid plexus cyst, Bulbou... ORPHA:293725
Aicardi Syndrome
Hiatus hernia, Recurrent pneumonia, Anteverted nares, Cleft upper lip, Choroid plexus cyst, Cavum... OMIM:304050
Biemond Syndrome Type 2
Microphthalmia, Coloboma, Hydrocephalus ORPHA:141333
Paganini-Miozzo Syndrome
Deeply set eye, Mandibular prognathia, Dilation of lateral ventricles, Thin vermilion border, Dow... OMIM:301025
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism, Microcephaly, Pachygyria, Hypoplasia of the corpus callosum, Cerebral white matter ... OMIM:619091
Mental Retardation Syndrome, Belgian Type
Deeply set eye, Cleft ala nasi, Coloboma, Mandibular prognathia, Wide nose OMIM:249599
Bresek Syndrome
Plagiocephaly, Intrauterine growth retardation, Optic nerve hypoplasia, Aganglionic megacolon, Co... ORPHA:85284
Tetrasomy 5P
Cyanosis, High palate, Long philtrum, Pericallosal lipoma, Wide nasal bridge, Micrognathia, Midfa... ORPHA:3309
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Hypertelorism, Long philtrum, Abnormality of the dentition, Cleft soft palat... OMIM:616331
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Narrow mouth, Hypotelorism, Intrauterine growth retardation, Prominent superficial veins, Oligodo... OMIM:616817
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Craniosynostosis, Agenesis of corpus callosum, Frontal encephalocele, Micr... ORPHA:1528
Pde4D Haploinsufficiency Syndrome
Hypotelorism, Short philtrum, Intrauterine growth retardation, Long philtrum, Micrognathia, Hypop... ORPHA:439822
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Hypotelorism, Cerebral atrophy, Progressive microcephaly, Ventriculomegaly, Microcephaly, Simplif... OMIM:615760
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Aplasia/Hypoplasia of the corpus callosum, Wide nasal bridge, Ventriculomegaly, ... OMIM:612651
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Abnormal corpus callosum morphology, Colpocephaly, Abnormality of the basal ganglia, Occip... ORPHA:397715
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Narrow mouth, Cerebral atrophy, Long philtrum, Astigmatism, Wide nasal bridge, Ventriculomegaly, ... OMIM:618659
Mosaic Variegated Aneuploidy Syndrome
Apnea, Intrauterine growth retardation, Depressed nasal ridge, Colon cancer, Aplasia/Hypoplasia o... ORPHA:1052
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Deeply set eye, Short philtrum, Intrauterine growth retardation, Bulbous nose, Wide nasal bridge,... ORPHA:261304
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Micrognathia, Microcephaly, Coloboma, Hypotelorism, High palate,... OMIM:616975
Fraser Syndrome 1
Abnormal cortical gyration, Underdeveloped nasal alae, Abnormality of the small intestine, Microc... OMIM:219000
Pai Syndrome
Bifid uvula, Aplasia/Hypoplasia of the corpus callosum, Nasal polyposis, Depressed nasal bridge, ... ORPHA:1993
Mosaic Trisomy 1
Short upper lip, Agenesis of corpus callosum, Small anterior fontanelle, Thick lower lip vermilio... ORPHA:1692
Cockayne Syndrome Type 2
Anophthalmia, Developmental cataract, Intrauterine growth retardation, Widely spaced primary teet... ORPHA:90322
Temple Syndrome
High palate, Short philtrum, Bifid uvula, Intrauterine growth retardation, Micrognathia, Frontal ... OMIM:616222
Holoprosencephaly-Craniosynostosis Syndrome
Hypotelorism, Plagiocephaly, Craniosynostosis, Microcephaly, Brachycephaly, Holoprosencephaly ORPHA:2163
Acrocraniofacial Dysostosis
Short philtrum, Hypotelorism, Craniosynostosis, Micrognathia, Oxycephaly, Natal tooth, Prominent ... OMIM:201050
Schilbach-Rott Syndrome
Narrow mouth, Hypotelorism, Long nose, Bifid uvula, Micrognathia, Microcephaly, Submucous cleft h... OMIM:164220
Vissers-Bodmer Syndrome
Holoprosencephaly, Intrauterine growth retardation OMIM:619033
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anophthalmia, Bifid uvula, Anosmia, Failure of eruption of permanent ... ORPHA:2250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly OMIM:616335
Cerebrooculofacioskeletal Syndrome 2
Deeply set eye, Developmental cataract, Intrauterine growth retardation, Cataract, Cutaneous phot... OMIM:610756
Vici Syndrome
Hypotelorism, High palate, Agenesis of corpus callosum, Cataract, Cerebral cortical atrophy, Deat... ORPHA:1493
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Dilation of lateral ventricles, Optic nerve hypoplasia, Hypoplasia of the corpus ca... OMIM:618890
X-Linked Intellectual Disability, Wilson Type
Thick vermilion border, Microcephaly, Brachycephaly, Mandibular prognathia, Dilation of lateral v... ORPHA:85290
Gombo Syndrome
Microphthalmia, Microcephaly OMIM:233270
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate OMIM:248110
Adams-Oliver Syndrome 2
Cerebral atrophy, Developmental cataract, Cutis marmorata, Bulbous nose, Micrognathia, Microphtha... OMIM:614219
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Deeply set eye, Anteverted nares, Long philtrum, Depressed nasal ridge, Sleep apnea, Microcephaly... ORPHA:464288
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Acrocyanosis, Death in childhood OMIM:302000
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Anophthalmia, Depressed nasal ridge, Sclerocornea, Microcornea,... ORPHA:564
Stevenson-Carey Syndrome
Pierre-Robin sequence, Narrow mouth, Anteverted nares, Underdeveloped nasal alae, Microphthalmia,... OMIM:611961
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Hypotelorism, High palate, Delayed eruption of teeth, Supernumerary tooth, Micro... OMIM:264475
Supernumerary Nostril
Developmental cataract, Abnormality of ethmoid sinus, Microcornea, Choanal atresia, Supernumerary... ORPHA:141096
Frontorhiny
Hypoplastic frontal sinuses, Basal encephalocele, Aplasia/Hypoplasia of the corpus callosum, Hypo... ORPHA:391474
Marbach-Schaaf Neurodevelopmental Syndrome
Hypotelorism, Broad nasal tip, Plagiocephaly, Astigmatism, Microcephaly, Submucous cleft hard pal... OMIM:619680
Trichothiodystrophy
Developmental cataract, Prematurely aged appearance, Astigmatism, High, narrow palate, Microcepha... ORPHA:33364
Oculodentodigital Dysplasia
Underdeveloped nasal alae, Micrognathia, Mandibular prognathia, Cleft palate, Short nose, Hypotel... ORPHA:2710
Sandestig-Stefanova Syndrome
High palate, Trigonocephaly, Developmental cataract, Intrauterine growth retardation, Respiratory... OMIM:618804
Microphthalmia, Syndromic 5
Anophthalmia, Microcornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Coloboma, Ectopic po... OMIM:610125
Bilateral Generalized Polymicrogyria
Abnormal hippocampus morphology, Hypoplastic hippocampus, Impaired mastication, Microcephaly, Hyp... ORPHA:208447
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebral atrophy, High palate, Intrauterine growth retardation, Dilated fourth ventricle, Leukoen... ORPHA:572798
Ring Chromosome 21 Syndrome
Microcephaly, Holoprosencephaly, Cutaneous photosensitivity ORPHA:1445
Non-Syndromic Metopic Craniosynostosis
Hypotelorism, Trigonocephaly, Wide nasal bridge ORPHA:3366
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Deeply set eye, Dysplastic corpus callosum, Periventricular cysts, Bulbous nose, Vascular skin ab... ORPHA:544488
Beare-Stevenson Cutis Gyrata Syndrome
Narrow mouth, Craniosynostosis, Anteverted nares, Agenesis of corpus callosum, Choanal stenosis, ... OMIM:123790
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Microcephaly, Hypotelorism, Drooling, Hypoplasia of the corpus callosum ORPHA:477673
Microphthalmia With Limb Anomalies
High palate, Anophthalmia, Cleft upper lip, Flared nostrils, Deep philtrum, Microphthalmia, Front... OMIM:206920
Amyotrophy, Hereditary Neuralgic
Deeply set eye, Hypotelorism, Narrow mouth, Depressed nasal bridge, Cleft palate, Long nasal bridge OMIM:162100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Galloway-Mowat Syndrome
Hiatus hernia, Hypotelorism, Intrauterine growth retardation, Micrognathia, Microcephaly, Pachygy... ORPHA:2065
Isolated Exencephaly
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Depressed nasal bridge, Hypoplasia of... ORPHA:563612
Mosaic Variegated Aneuploidy Syndrome 2
Deeply set eye, Hypotelorism, Narrow mouth, Craniosynostosis, Intrauterine growth retardation, Do... OMIM:614114
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypotelorism, High palate, Short philtrum, Drooling, Underdeveloped nasal alae, Micrognathia, Mid... OMIM:300986
Smith-Lemli-Opitz Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcephaly, Cleft palat... ORPHA:818
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Agyria, Optic nerve hypoplasia, Micrognathia, Microcephaly, Coloboma, Dandy-Walker malformation, ... OMIM:236670
Cach Syndrome
Cerebral atrophy, Intrauterine growth retardation, Cataract, T2 hypointense thalamus, Dysgyria, M... ORPHA:135
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Long philtrum, Thin corpus callosum, Exaggerated cupid's bow, Micrognathia, Microcephaly, Mandibu... OMIM:619512
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow mouth, Hypotelorism, Narrow nasal ridge, Wormian bones, Corneal arcus, Intrauterine growth... OMIM:219150
Mmep Syndrome
Microphthalmia, Microcephaly, Mandibular prognathia, Oral cleft, Median cleft lip ORPHA:3434
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Holoprosencephaly, Hydrocephalus, Absent septum pellucidum, Aqueduct... ORPHA:2182
Coach Syndrome 2
Chorioretinal coloboma, Apneic episodes in infancy, Agenesis of corpus callosum, Coloboma, Hydroc... OMIM:619111
Cog5-Cdg
High palate, Intrauterine growth retardation, Cerebral white matter atrophy, Wide nasal bridge, M... ORPHA:263487
16P11.2P12.2 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Long nose, Absent nasal bridge, Intrauterine growth retardation, Bu... ORPHA:261211
Satb2-Associated Syndrome Due To A Pathogenic Variant
Deeply set eye, High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, ... ORPHA:576283
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Agenesis of corpus callosum, Holoprosencephaly, Cataract, Microphthalmia, Lissencephaly, ... OMIM:253800
Apert Syndrome
Bifid uvula, Cloverleaf skull, Mandibular prognathia, Cleft palate, Acrobrachycephaly, Convex nas... ORPHA:87
Muscle-Eye-Brain Disease
Holoprosencephaly, Cataract, Meningocele, Hydrocephalus ORPHA:588
Meckel Syndrome, Type 1
Micrognathia, Microcephaly, Dandy-Walker malformation, Cleft palate, Hypotelorism, Cleft upper li... OMIM:249000
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Intrauterine growth retardation, Delayed eruption of teeth, Enamel hypop... OMIM:619229
Microphthalmia, Syndromic 8
Cleft upper lip, Microcornea, Microphthalmia, Microcephaly, Widely-spaced maxillary central incis... OMIM:601349
Pallister-Hall Syndrome
Hypothalamic hamartoma, Anteverted nares, Cleft upper lip, Intrauterine growth retardation, Panhy... OMIM:146510
Ring Chromosome 7 Syndrome
Bifid uvula, Microcephaly, Mandibular prognathia, Narrow naris, Cleft palate, Short nose, Narrow ... ORPHA:1449
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Pulp calcification, Enamel hypoplasia,... OMIM:166750
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia, Coloboma, Prominent nasal bridge, Smooth philtrum, Secondary micr... OMIM:618652
Otodental Syndrome
Long philtrum, Pulp calcification, Retinal coloboma, Microcornea, Cataract, Carious teeth, Abnorm... ORPHA:2791
Perching Syndrome
High palate, Depressed nasal bridge, Respiratory distress OMIM:617055
Hartsfield Syndrome
Hypotelorism, Gonadotropin deficiency, Craniosynostosis, Cleft upper lip, Agenesis of corpus call... OMIM:615465
Warburg Micro Syndrome 3
Shallow anterior chamber, Developmental cataract, Microcornea, Cataract, Ventriculomegaly, Microg... OMIM:614222
15Q24 Microdeletion Syndrome
Narrow mouth, Wide nasal base, Myelomeningocele, Abnormal palate morphology, Long philtrum, Thick... ORPHA:94065
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Congenital Toxoplasmosis
Cerebral calcification, Intrauterine growth retardation, Ventriculomegaly, Jaundice, Microphthalm... ORPHA:858
Steinfeld Syndrome
Bifid uvula, Retinal coloboma, Aplasia of the nose, Microphthalmia, Median cleft lip and palate, ... OMIM:184705
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Abnormal hippocampus morphology, Leukoencephalopathy, Bilateral generalized pol... ORPHA:178469
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Tongue fasciculations, Abnormal corpus striatum morphology, Respirator... ORPHA:238329
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Bulbous nose, Wide nasal bridge, Ventriculomegaly, Microcephaly, Br... OMIM:300958
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Short philtrum, Plagiocephaly, Colpocephaly, Midface retrusion, Microcephaly, Polymicrogyria, Too... OMIM:618731
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow mouth, Craniosynostosis, Hypertelorism, Dolichocephaly, Anteverted nares, Choanal atresia,... ORPHA:1555
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Multiple Pterygium-Malignant Hyperthermia Syndrome
Narrow mouth, Hypotelorism, Broad alveolar ridges, Plagiocephaly, Long philtrum, Dolichocephaly, ... ORPHA:2215
Developmental Delay With Variable Neurologic And Brain Abnormalities
Astigmatism, Cataract, Widely spaced teeth, Microdontia, Micrognathia, Microphthalmia, Microcepha... OMIM:619694
Holoprosencephaly 4
Semilobar holoprosencephaly, Hypotelorism, Absent nasal septal cartilage, Depressed nasal bridge,... OMIM:142946
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Deeply set eye, Agyria, Hydrocephalus, Cataract, Optic nerve hypoplasia, Remnants of the hyaloid ... OMIM:614643
Congenital Disorder Of Glycosylation, Type Iif
Deeply set eye, Hypotelorism, Short philtrum, Microcephaly, Flat occiput, Subcutaneous hemorrhage OMIM:603585
Baller-Gerold Syndrome
Narrow mouth, Hypotelorism, High palate, Intrauterine growth retardation, Brachyturricephaly, Ana... ORPHA:1225
Chromosome 13Q33-Q34 Deletion Syndrome
Tented upper lip vermilion, Micrognathia, Microcephaly, Dandy-Walker malformation, Encephalocele,... OMIM:619148
Combined Oxidative Phosphorylation Defect Type 39
Cerebral atrophy, Abnormal corpus callosum morphology, Intrauterine growth retardation, Drooling,... ORPHA:565624
Slc35A2-Cdg
Cerebral atrophy, Craniosynostosis, Intrauterine growth retardation, Hypoplastic hippocampus, Cer... ORPHA:356961
Weyers Acrofacial Dysostosis
Hypotelorism, Solitary median maxillary central incisor, Conical tooth OMIM:193530
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Abnormality of cranial sutures, Long philtrum, Cataract, Micrognathia, Anterior plag... ORPHA:163649
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Plagiocephaly, Anteverted nares, Broad columella, Long philtrum, Cavum septum pelluc... OMIM:619383
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Intestinal malrotation, Anencephaly, Lobulated tongue, Holoprose... OMIM:269860
Hallermann-Streiff Syndrome
Tracheomalacia, Underdeveloped nasal alae, Narrow nose, Everted lower lip vermilion, High, narrow... OMIM:234100
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Intrauterine growth retardation, Depressed nasal ridge, Micrognathia, Microphthal... ORPHA:163966
Heart And Brain Malformation Syndrome
Prominent occiput, Cerebral atrophy, Prominent metopic ridge, Aplasia/Hypoplasia of the corpus ca... OMIM:616920
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Deeply set eye, Hypotelorism, Short philtrum, Long nose, Ventriculomegaly, Frontal bossing, Mandi... OMIM:300486
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate, Hydrocephalus OMIM:258320
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microcornea, Cataract, Ventriculomegaly, Micrognathia, Microphth... ORPHA:48431
Amish Lethal Microcephaly
Agenesis of corpus callosum, Cleft soft palate, Ventriculomegaly, Micrognathia, Microcephaly, Lis... ORPHA:99742
Nasopalpebral Lipoma-Coloboma Syndrome
Recurrent upper respiratory tract infections, Dolichocephaly, Cataract, Corneal opacity, Micropht... ORPHA:2399
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Long philtrum, Acrania, Ho... OMIM:618820
Congenital Varicella Syndrome
Intrauterine growth retardation, Cataract, Microphthalmia, Microcephaly, Cerebral cortical atrophy ORPHA:291
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short philtrum, Dilated third ventricle, High, narrow palate, Depressed nasal bridge, Hydrocephal... OMIM:619575
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Bulbous nose, Ventriculomegaly, Simplified gyral patte... OMIM:615219
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypotelorism, High palate, Solitary median maxillary central incisor, Cleft upper lip, Micrognath... OMIM:602418
Vacterl With Hydrocephalus
Anophthalmia, Intrauterine growth retardation, Microcornea, Tracheoesophageal fistula, Anal atres... ORPHA:3412
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Noonan Syndrome 14
Bruising susceptibility, Long philtrum, Prominent nasolabial fold, High, narrow palate, Wide mout... OMIM:619745
Acrofacial Dysostosis, Weyers Type
Solitary median maxillary central incisor, Conical tooth, Hypodontia, Abnormal oral frenulum morp... ORPHA:952
Pfeiffer Syndrome Type 2
High palate, Tracheomalacia, Intestinal malrotation, Anal atresia, Choanal atresia, Cloverleaf sk... ORPHA:93259
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Joubert Syndrome 22
Intrauterine growth retardation, Temporal cortical atrophy, Microphthalmia, Coloboma, Hypoplasia ... OMIM:615665
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Long philtrum, Depressed nasal ridge, Wide nasal bridge, Lissencephal... ORPHA:2211
Joubert Syndrome 2
Chorioretinal coloboma, Abnormal corpus callosum morphology, High palate, Hypertelorism, Neonatal... OMIM:608091
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Deeply set eye, Hypotelorism, Short philtrum, Solitary median maxillary central incisor, Semiloba... OMIM:301044
Acrootoocular Syndrome
Wide nasal base, Hypotelorism, Delayed eruption of teeth, Supernumerary tooth, High, narrow palat... ORPHA:2980
Koolen-De Vries Syndrome
Hypotelorism, High palate, Cleft upper lip, Intrauterine growth retardation, Bulbous nose, Open m... OMIM:610443
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Agenesis of corpus callosum, Prominent metopic ridge, Bulbous nose, Cle... OMIM:618779
Short Stature, Microcephaly, And Endocrine Dysfunction
Deeply set eye, Hypotelorism, Long nose, Broad nasal tip, Intrauterine growth retardation, Catara... OMIM:616541
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Intrauterine growth retardation, Cataract, Aplasia/Hypoplasia affecting the eye... ORPHA:1914
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Underdeveloped nasal alae, Agenesis of central incisor, Everted lower lip vermili... ORPHA:364577
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Broad nasal tip, Long philtrum, Microcornea, Astigmatism, Cataract, Corneal opacity, Thick lower ... OMIM:152950
Curry-Jones Syndrome
Craniosynostosis, Agenesis of corpus callosum, Anal stenosis, Intestinal malrotation, Ventriculom... OMIM:601707
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Microcephaly, Cataract, Cutaneous photosensitivity OMIM:278780
Frontofacionasal Dysplasia
Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Cranium bifidum occultum, Microcornea, C... OMIM:229400
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Microcephaly, Coloboma, Bilateral microphthalmos, Low hanging columella, Unilateral... OMIM:619318
Camptodactyly Syndrome, Guadalajara, Type Ii
Hypotelorism, Intrauterine growth retardation, Long philtrum, Micrognathia, Microcephaly OMIM:211920
Trichothiodystrophy 8, Nonphotosensitive
Hypotelorism, Long philtrum, Retrognathia, Thin upper lip vermilion, Prominent nose OMIM:619691
Joubert Syndrome 23
Apnea, Coloboma, Tachypnea, Dysplastic corpus callosum OMIM:616490
Charge Syndrome
Microcephaly, Dandy-Walker malformation, Hypoplasia of the zygomatic bone, Cleft palate, Narrow m... ORPHA:138
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism, Abnormality of calvarial morphology ORPHA:1952
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Microcornea, Coloboma, Malar flattening, Clef... ORPHA:921
Oculocerebrofacial Syndrome, Kaufman Type
Short philtrum, Abnormal lip morphology, Microcornea, Microdontia, Respiratory failure, High, nar... ORPHA:2707
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypotelorism, Abnormal palate morphology, Micrognathia, Frontal bossing, Narrow nasal bridge, Man... ORPHA:3082
Verheij Syndrome
Cerebral atrophy, Long philtrum, Wide nasal bridge, Microcephaly, Coloboma, Thin upper lip vermil... OMIM:615583
Neuralgic Amyotrophy
Narrow mouth, Respiratory insufficiency, Cleft palate, Acrocyanosis ORPHA:2901
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Hypertelorism, Intrauterine growth retardation, Dolichocephaly, Temporomandibular jo... ORPHA:2872
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Neuronal loss in basal ganglia, Basal ganglia gliosis, Respiratory distress OMIM:604377
Faciothoracogenital Syndrome
Long philtrum, Micrognathia, Microphthalmia, Smooth philtrum, Thin upper lip vermilion, Anteverte... OMIM:227320
Hermansky-Pudlak Syndrome 10
Hypotelorism, Cerebral atrophy, Microcephaly, Ocular albinism, Smooth philtrum, Retrognathia, Apnea OMIM:617050
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Bifid uvula, Delayed eruption of teeth, Cataract, Wide nasal bridge, Thic... ORPHA:2780
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Protruding tongue, Intrauterine growth retardation, Skull asymmetry, Cutis marmorata... OMIM:612938
Cockayne Syndrome Type 1
Deeply set eye, Anophthalmia, Widely spaced primary teeth, Enamel hypoplasia, Cataract, Cutaneous... ORPHA:90321
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Dolichocephaly, Bulbous nose, Astigmatism, Cataract, Deep philtrum, Wide nasal bri... OMIM:618571
Microphthalmia With Linear Skin Defects Syndrome
Micrognathia, Microcephaly, Retrognathia, Anophthalmia, Sclerocornea, Mandibular aplasia, Abnorma... ORPHA:2556
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Long philtrum, Microdontia, Micrognathia, Microcephaly, Coloboma, Abnormality of upper lip vermil... ORPHA:251028
Neu-Laxova Syndrome
Abnormal cortical gyration, Prominent occiput, Bifid uvula, Pterygium, Trismus, Everted lower lip... ORPHA:2671
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysplastic corpus callosum, Progressive microcephaly, Ventriculomegaly, Multifocal hype... ORPHA:488627
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
High palate, Hypotelorism, Hyperintensity of cerebral white matter on MRI, Increased circulating ... ORPHA:502423
Branchio-Oculo-Facial Syndrome
Premature graying of hair, High palate, Broad nasal tip, Intrauterine growth retardation, Dolicho... ORPHA:1297
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria, Wide nasal bridge OMIM:614870
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Seckel Syndrome 7
Microcephaly, Hypotelorism, Intrauterine growth retardation, Prominent nose OMIM:614851
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, High, narrow palate, Micrognathia, Depressed nasal bridge, Respiratory distress, ... OMIM:608799
Micro Syndrome
High palate, Short philtrum, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus ca... ORPHA:2510
Orofaciodigital Syndrome Xiv
Hamartoma of tongue, Micrognathia, Microcephaly, Dandy-Walker malformation, Cleft palate, Retinal... OMIM:615948
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Agenesis of corpus callosum, Spina bifida, Inspiratory stridor, Hydro... OMIM:207950
Joubert Syndrome 16
Dandy-Walker malformation, Coloboma, Hypertelorism, Encephalocele OMIM:614465
Treacher Collins Syndrome 2
Choanal stenosis, Micrognathia, Choanal atresia, Coloboma, Cleft palate OMIM:613717
Iniencephaly
Narrow mouth, Myelomeningocele, Anencephaly, Anal atresia, Dandy-Walker malformation, Lissencepha... ORPHA:63259
Cat-Eye Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Anal atresia, Microphthalmia, Hypertelor... ORPHA:195
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Septo-optic dysplasia, Agenesis of corpus callosum, Microcornea, Cataract, Aplasia/... ORPHA:3301
Emanuel Syndrome
Bifid uvula, Long philtrum, Astigmatism, Micrognathia, Microcephaly, Dandy-Walker malformation, C... ORPHA:96170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Optic nerve hypoplasia, Microphthalmia, Polymicrogyria, Hydrocephalus, Type II lissence... OMIM:615181
Smith-Lemli-Opitz Syndrome
Long philtrum, Micrognathia, Microcephaly, Dandy-Walker malformation, Cleft palate, Intrauterine ... OMIM:270400
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
2Q31.1 Microdeletion Syndrome
Trigonocephaly, Long philtrum, Prominent metopic ridge, Bulbous nose, Everted lower lip vermilion... ORPHA:251014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Cleft upper lip, Agenesis of corpus callosum, Persistent pupillary membrane, Catar... OMIM:613150
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Agenesis of corpus callosum, Tracheomalacia, Micrognathia, Microcephaly, A... OMIM:217980
Galloway-Mowat Syndrome 9
Hiatus hernia, Hypotelorism, Ventriculomegaly, Microcephaly, Cerebral cortical atrophy, Thin corp... OMIM:619603
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Agenesis of corpus callosum, Enamel hypoplasia, Non-midline... ORPHA:2919
Isolated Sedoheptulokinase Deficiency
Hypotelorism, Shallow orbits, Ventriculomegaly, Neonatal asphyxia, Large fontanelles, Subcortical... ORPHA:440713
Giacheti Syndrome
Hypotelorism OMIM:612917
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Agenesis of corpus callosum, Anterior pituitary hypoplasia, Underdeveloped nasal al... ORPHA:264200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Cataract, Corneal opacity, Microphthalmia, Bilater... ORPHA:1473
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Anophthalmia, Agenesis of corpus callosum, Anterior pituitary hypoplasia,... OMIM:206900
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Bronchiectasis, Atelectasis, Lissencephaly, Abnormal mucociliary cle... OMIM:619466
Weaver Syndrome
Hypertelorism, Long philtrum, Depressed nasal bridge, Retrognathia, Mandibular prognathia, Absent... OMIM:277590
Acrocallosal Syndrome
Prominent occiput, Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Coloboma, Cleft pala... OMIM:200990
Saethre-Chotzen Syndrome
Hypotelorism, Plagiocephaly, Craniosynostosis, Open bite, Sleep apnea, Convex nasal ridge, Hypopl... ORPHA:794
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Progressive microcephaly, Central apnea ORPHA:71277
Joubert Syndrome 37
Deeply set eye, High palate, Prominent metopic ridge, Wide nasal bridge, Microphthalmia, Frontal ... OMIM:619185
Gaucher Disease, Perinatal Lethal
Narrow mouth, Petechiae, Intrauterine growth retardation, Purpura, Open mouth, Everted lower lip ... OMIM:608013
Meckel Syndrome, Type 4
Hydrocephalus, Intrauterine growth retardation, Anencephaly, Microphthalmia, Microcephaly, Dandy-... OMIM:611134
Treacher Collins Syndrome 3
Coloboma, Malar flattening, Cleft palate, Micrognathia OMIM:248390
Maternal Phenylketonuria
Hypotelorism, High palate, Deviated nasal septum, Intrauterine growth retardation, Long philtrum,... ORPHA:2209
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Respiratory failure, Tongue fasciculations, Respirat... OMIM:614399
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, Intestinal malrotation, Abnormal oral frenulum morphology, Deep philt... ORPHA:404440
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Plagiocephaly, Bulbous nose, Open mouth, Everted lower lip vermilion, Macroglossia, Coloboma, Dep... OMIM:616789
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Aplasia/Hypoplasia involving the nose, Choanal atresia, Microphthalmia, Abnormality ... ORPHA:1135
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intrauterine growth retardation, Asthma, Abn... ORPHA:2257
Pseudo-Torch Syndrome 2
Cerebral calcification, Petechiae, Ventriculomegaly, Pleural effusion, Microcephaly, Acute respir... OMIM:617397
Bartsocas-Papas Syndrome 1
Corneal ulceration, Pterygium, Popliteal pterygium, Intrauterine growth retardation, Cleft upper ... OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Broad nasal tip, Long philtrum, Micrognathia, Microcephaly, Thin upper lip vermilion, Short nose,... OMIM:309590
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Dolichocephaly, Carious teeth, Widely spaced teeth, Wide nasal bridge, Midface retrusion, Depress... OMIM:617102
Marden-Walker Syndrome
Narrow mouth, High palate, Agenesis of corpus callosum, Intrauterine growth retardation, Long phi... OMIM:248700
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Retinal coloboma, Hydrocephalus OMIM:601794
Braddock Syndrome
Hypotelorism, Intrauterine growth retardation, Micrognathia, Pulmonary arterial hypertension, Neo... ORPHA:52047
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Tracheoesophageal fistula, Wide nasal bridge, Anal atresia, Esop... OMIM:614083
Bohring-Opitz Syndrome
Micrognathia, Microcephaly, Coloboma, Dandy-Walker malformation, Retrognathia, Prominent palatine... ORPHA:97297
3Q29 Microduplication Syndrome
Biparietal narrowing, High palate, Ectopic anus, Craniosynostosis, Sclerocornea, Cataract, Deep p... ORPHA:251038
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bulbous nose, Cavum septum pellucidum, Microcephaly, Coloboma, Smooth philtrum, Umbilical hernia,... ORPHA:329224
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypotelorism, Neonatal respiratory distress, High palate OMIM:619053
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, Cataract, High, narrow palate, Midface retrusion, Micrognathi... OMIM:604841
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Long philtrum, Fused teeth... ORPHA:2712
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Long philtrum, Microcephaly, Dilation of lateral ventricles, High palate, Cleft uppe... OMIM:607872
White-Kernohan Syndrome
Hypotelorism, Rectovaginal fistula, Dysplastic corpus callosum, Underdeveloped nasal alae, Tented... OMIM:619426
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Bifid uvula, Optic nerve hypoplasia, Metopic synostosis, Dilation of ... ORPHA:500150
Lig4 Syndrome
Hypotelorism, Cutaneous photosensitivity, Microcephaly, Telangiectasia, Prominent nose OMIM:606593
Warburg Micro Syndrome 4
Deeply set eye, Narrow mouth, Developmental cataract, Long philtrum, Microcornea, Perisylvian pol... OMIM:615663
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Coloboma, Ectopia pupillae OMIM:615877
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
Nanophthalmos 4
Microphthalmia OMIM:615972
Pfeiffer Syndrome Type 3
High palate, Tracheomalacia, Brachyturricephaly, Intestinal malrotation, Anal atresia, Choanal at... ORPHA:93260
Desmosterolosis
Abnormal cortical gyration, Bifid uvula, Micrognathia, Microcephaly, Lissencephaly, Macrogyria, R... ORPHA:35107
Hydranencephaly
Atrophic pituitary gland, Hypotelorism, Dysgenesis of the thalamus, Intrauterine growth retardati... ORPHA:2177
Retinal Dystrophy With Leukodystrophy
Hypotelorism, Progressive microcephaly, Cleft palate OMIM:618863
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
8Q21.11 Microdeletion Syndrome
Narrow mouth, High palate, Short philtrum, Underdeveloped nasal alae, Sclerocornea, Aplasia/Hypop... ORPHA:284160
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Long philtrum, Widely spaced teeth, Microdontia, Ventriculomegaly, Wide na... OMIM:619479
Fetal Alcohol Syndrome
Biparietal narrowing, Intrauterine growth retardation, Non-midline cleft lip, Microdontia, Microg... ORPHA:1915
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Bifid uvula, Panhypopituitarism, Adr... ORPHA:672
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hypotelorism, Anosmia, Cleft upper lip, Cleft palate OMIM:244200
Curry-Jones Syndrome
Craniosynostosis, Hypertelorism, Agenesis of corpus callosum, Intestinal malrotation, Ventriculom... ORPHA:1553
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Arnold-Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Pneumonia, Agenesis of corpus callosum, Ventriculomegaly, Partial age... ORPHA:1136
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Corneal neovascularization, Coloboma, Aniridia, A... ORPHA:2334
Culler-Jones Syndrome
Hypotelorism, Cleft upper lip, Anterior pituitary hypoplasia, Hypopituitarism, Midface retrusion,... OMIM:615849
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Microcornea, Microdontia, Carious teeth, Micrognathia, Microphthalmia, Microcephaly... OMIM:616734
1Q21.1 Microdeletion Syndrome
Deeply set eye, High palate, Agenesis of corpus callosum, Intrauterine growth retardation, Long p... ORPHA:250989
Spastic Paraplegia 81, Autosomal Recessive
Microcephaly, Bifid uvula, Cleft palate, Periventricular white matter hyperintensities OMIM:618768
Harrod Syndrome
Narrow mouth, Hypotelorism, Malrotation of small bowel, High palate, Long nose, Aganglionic megac... OMIM:601095
Kennerknecht Syndrome
Deeply set eye, Hypotelorism, Malrotation of colon, High palate, Hypodontia, Convex nasal ridge OMIM:600908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Hypoplasia of the retina, Type II lissencephaly, Aplasia/Hypoplasia of the corpus ... OMIM:253280
Short Rib-Polydactyly Syndrome
Intrauterine growth retardation, Intestinal malrotation, Abnormal cerebral morphology, Respirator... ORPHA:1505
Megalocornea-Mental Retardation Syndrome
High palate, Bifid uvula, Long philtrum, Iridodonesis, Hypoplasia of the iris, Wide nasal bridge,... OMIM:249310
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Death in childhood, Hydrocephalus, Death in infancy, Dilation of lateral ven... OMIM:612301
Apert Syndrome
Bifid uvula, Shallow orbits, Mandibular prognathia, Cleft palate, Acrobrachycephaly, Choanal atre... OMIM:101200
Skin Creases, Congenital Symmetric Circumferential, 1
Narrow mouth, High palate, Microcornea, Micrognathia, Microphthalmia, Microcephaly, Dandy-Walker ... OMIM:156610
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Long philtrum, Aganglionic megacolon, Wide nasal bridge, Microgn... ORPHA:1438
Fanconi Anemia, Complementation Group S
Dental malocclusion, Anteverted nares, Thick upper lip vermilion, Microphthalmia, Microcephaly, P... OMIM:617883
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Deeply set eye, Hypotelorism, Narrow mouth, High palate, Micrognathia, Malar flattening OMIM:602471
Diaphanospondylodysostosis
Intrauterine growth retardation, Tracheomalacia, Depressed nasal ridge, Micrognathia, Depressed n... OMIM:608022
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Bilateral ... OMIM:608572
Rere-Related Neurodevelopmental Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Astigmatism, Ventriculomegaly, Peters an... ORPHA:494344
Fryns Syndrome
Long philtrum, Tented upper lip vermilion, Micrognathia, Dandy-Walker malformation, Cleft palate,... ORPHA:2059
Focal Dermal Hypoplasia
Broad nasal tip, Microcephaly, Cleft palate, Anophthalmia, Cleft upper lip, Cleft ala nasi, Ename... OMIM:305600
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, High palate, Wide nasal bridge, Micrognathia, Microcephaly, Hypoplastic nasal tip, Thin... ORPHA:3304
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Abnormal caudate nucleus morphology, Aspiration, Cerebral white matter atrophy, Pachygyri... ORPHA:2148
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Degcags Syndrome
Long philtrum, Tracheomalacia, Micrognathia, Microcephaly, Intestinal atresia, Retrognathia, Shor... OMIM:619488
Microphthalmia, Syndromic 6
High palate, Plagiocephaly, Anophthalmia, Bifid uvula, Lambdoidal craniosynostosis, Sclerocornea,... OMIM:607932
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Long philtrum, Underdeveloped nasal alae, Narrow nose, Micrognathia, Narrow mouth, Mic... OMIM:257850
Short Chain Acyl-Coa Dehydrogenase Deficiency
Microcephaly, Intrauterine growth retardation, Respiratory distress ORPHA:26792
Moebius Syndrome
High palate, Bifid uvula, Micrognathia, Microphthalmia, Depressed nasal bridge, Abnormal nasophar... OMIM:157900
Fraser Syndrome
Underdeveloped nasal alae, Microcephaly, Death in infancy, Encephalocele, High palate, Anophthalm... ORPHA:2052
Basal Cell Nevus Syndrome
Odontogenic keratocysts of the jaw, Cleft upper lip, Cataract, Calcification of falx cerebri, Wid... OMIM:109400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Anophthalmia, Corneal dystrophy, Long philtrum, Dolichocephaly, High, narrow palat... ORPHA:1101
Arachnoid Cyst
Enlarged fossa interpeduncularis, Mild malformation of cortical development, Mydriasis, Hydroceph... ORPHA:2356
15Q Overgrowth Syndrome
Bifid uvula, High, narrow palate, Micrognathia, Dandy-Walker malformation, Retrognathia, Mandibul... ORPHA:314585
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Depressed nasal bridge, Polymicrogyria, Brachycephaly, Hypertelorism OMIM:612379
Coffin-Siris Syndrome 1
Broad nasal tip, Long philtrum, Astigmatism, Microdontia, Microcephaly, Dandy-Walker malformation... OMIM:135900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Cerebral calcification, Hydrocephalus, Buphthalmos, Cataract, Respiratory failure, Ventri... OMIM:616538
Microphthalmia, Syndromic 2
Broad nasal tip, Developmental cataract, Bifid uvula, Long philtrum, Radiculomegaly, Microcephaly... OMIM:300166
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cataract, Hypodontia, Midface retrusion, Microcephaly, Narrow nasal bridge, Respiratory distress,... ORPHA:544503
White-Sutton Syndrome
Broad nasal tip, Bifid uvula, Astigmatism, Optic nerve hypoplasia, Micrognathia, Microcephaly, Ma... OMIM:616364
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Deeply set eye, Bifid uvula, Thin vermilion border, Long philtrum, Convex nasal ridge, Ventriculo... OMIM:241410
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Cataract, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria OMIM:251270
Pontocerebellar Hypoplasia, Type 11
Microcephaly, Coloboma, Bulbous nose, Hypoplasia of the corpus callosum OMIM:617695
Cri-Du-Chat Syndrome
Abnormal respiratory system physiology, High palate, Short philtrum, Bifid uvula, Premature grayi... OMIM:123450
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Microphthalmia, Dandy-Walker malformation, Meningoc... OMIM:603194
Joubert Syndrome 21
Single naris, Anophthalmia, Occipital encephalocele, Dyspnea, Hypoplasia of the corpus callosum, ... OMIM:615636
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Chromosome 13Q14 Deletion Syndrome
Hypotelorism, Dolichocephaly, Bulbous nose, Everted lower lip vermilion, Deep philtrum, Frontal b... OMIM:613884
17Q12 Microduplication Syndrome
Deeply set eye, Tracheoesophageal fistula, Microphthalmia, Cortical dysplasia, Cleft palate ORPHA:261272
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Hypotelorism, Bruising susceptibility, Agenesis of corpus callosum, Tracheoesophag... OMIM:227646
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Long philtrum, Underdeveloped nasal alae, Evert... OMIM:608670
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Mitochondrial Pyruvate Carrier Deficiency
Thin upper lip vermilion, Respiratory distress, Progressive microcephaly, Long philtrum OMIM:614741
Congenital Disorder Of Glycosylation, Type Id
Cerebral atrophy, High palate, Bifid uvula, Bulbous nose, Wide nasal bridge, Microcephaly, Depres... OMIM:601110
Orofacial Cleft 13
Cleft soft palate, Oligodontia, Micrognathia, Malar flattening, Retrognathia OMIM:613857
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Depressed nasal ridge, Microphthalmia, Frontal bossing, Hydrocep... OMIM:300863
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Plagiocephaly, Hypertelorism, Bulbous nose, Open mouth, Widely spaced teeth, Wide na... ORPHA:369891
3P25.3 Microdeletion Syndrome
Short philt