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Gene: Nosip MGI:1913644

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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lacZ Expression

Expression data not available

Associated Images

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

Gross Morphology Embryo E14.5-E15.5

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4 Images

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Electrocardiogram (ECG)

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1 Images

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Human diseases caused by Nosip mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Holoprosencephaly 5
High palate, Hydrocephalus, Trigonocephaly, Hypertelorism, Deep philtrum, Lobar holoprosencephaly... OMIM:609637
Solitary Median Maxillary Central Incisor
Cyclopia, Choanal atresia, Holoprosencephaly, Decreased response to growth hormone stimulation te... OMIM:147250
Holoprosencephaly 3
Cyclopia, Bifid uvula, Cleft lip, Malar flattening, Holoprosencephaly, Solitary median maxillary ... OMIM:142945
Microform Holoprosencephaly
Cyclopia, Iris coloboma, Duodenal atresia, Short nose, Choanal atresia, Holoprosencephaly, Intrau... ORPHA:280200
Cerebrooculonasal Syndrome
Solitary median maxillary central incisor, Optic nerve hypoplasia, Ventriculomegaly, Cleft palate... OMIM:605627
Frontofacionasal Dysplasia
Encephalocele, Cataract, Brushfield spots, Iris coloboma, Brachycephaly, Facial cleft, Bifid nasa... ORPHA:1791
Holoprosencephaly 2
Aplasia of the premaxilla, Bifid uvula, Median cleft lip and palate, Solitary median maxillary ce... OMIM:157170
Acromelic Frontonasal Dysostosis
Encephalocele, Hypopituitarism, Broad nasal tip, Midline defect of the nose, Brachycephaly, Midli... OMIM:603671
Microphthalmia, Isolated, With Coloboma 5
Iris coloboma, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Chorioretinal colobom... OMIM:611638
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Cyclopia, Absent nares, Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Mandibular apla... ORPHA:990
Holoprosencephaly 7
Median cleft lip and palate, Unilateral cleft lip, Solitary median maxillary central incisor, Par... OMIM:610828
Proboscis Lateralis
Choanal atresia, Optic nerve hypoplasia, Ventriculomegaly, Single naris, Iris coloboma, Microphth... ORPHA:141099
Unilateral Ocular Duplication
Encephalocele, Iris coloboma, Midline facial cleft, Abnormal pupil morphology, Cleft palate, Doli... ORPHA:3374
Holoprosencephaly 14
Cyclopia, Partial agenesis of the corpus callosum, Hydrocephalus, Cleft lip, Aqueductal stenosis,... OMIM:619895
Anophthalmia Plus Syndrome
Abnormal nasal morphology, Iris coloboma, Spina bifida, Bilateral cleft lip and palate, Facial cl... ORPHA:1104
Frontonasal Dysplasia 1
Median cleft palate, Cataract, Broad nasal tip, Widely-spaced maxillary central incisors, Hypopla... OMIM:136760
16P13.11 Microdeletion Syndrome
Cyclopia, Short nose, Exaggerated cupid's bow, Holoprosencephaly, Ventriculomegaly, Anteverted na... ORPHA:261236
Holoprosencephaly
Tooth agenesis, Median cleft lip and palate, Choanal atresia, Hyposmia, Solitary median maxillary... ORPHA:2162
Acalvaria
Calvarial skull defect, Spina bifida, Hydrocephalus, Holoprosencephaly, Cleft palate, Hypertelorism ORPHA:945
Polyrrhinia
Lateral ventricle dilatation, Abnormal external nose morphology, Abnormal nasal bone morphology, ... ORPHA:141091
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Respiratory insufficiency, Lobar holoprosencephaly, Intrauterine... ORPHA:2117
Trisomy 18
Choanal atresia, Cleft palate, Narrow mouth, Narrow palate, Dolichocephaly, Esophageal atresia, I... ORPHA:3380
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Deeply set eye, Short nose, Lateral ventricle dilatation, Anteverted nares, Ventriculomegaly, Dow... OMIM:613443
Holoprosencephaly 13, X-Linked
Median cleft palate, Colpocephaly, Cyclopia, Duodenal atresia, Submucous cleft hard palate, Semil... OMIM:301043
Hydrolethalus
Retrognathia, Bifid uvula, Hydrocephalus, Anophthalmia, Deeply set eye, Unilateral cleft lip, Sub... ORPHA:2189
Holoprosencephaly 1
Cyclopia, Median cleft lip and palate, Facial cleft, Alobar holoprosencephaly, Microphthalmia, Pr... OMIM:236100
Triploidy
Macroglossia, Cataract, Iris coloboma, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterin... ORPHA:3376
Pseudotrisomy 13 Syndrome
Encephalocele, Cyclopia, Anal atresia, Hydrocephalus, Median cleft lip and palate, Holoprosenceph... OMIM:264480
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Hydrocephalus, Occipital encephalocele, Microphthalmia, Ventr... ORPHA:324416
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Hypotelorism, Ar... OMIM:218670
Holoprosencephaly 11
Cleft lip, Holoprosencephaly, Cleft palate, Hypotelorism, Proptosis, Agenesis of corpus callosum OMIM:614226
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Cyclopia, Anal atresia, Absent nares, Hydrocephalus, Umbilical hernia, Holoprosenc... ORPHA:2166
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cyclopia, Holoprosencephaly, Cleft palate, Proptosis, Median cleft lip, Hypertelorism ORPHA:2165
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Cataract, High palate, Short nose, Microphthalmia, Lateral ventricle dilatation, Anteverted nares... OMIM:614105
Chromosome 1Q41-Q42 Deletion Syndrome
Broad nasal tip, Trigonocephaly, Widely spaced teeth, Ventriculomegaly, Cleft palate, Hypoteloris... OMIM:612530
Adams-Oliver Syndrome 2
Hydrocephalus, Microphthalmia, Lateral ventricle dilatation, Bulbous nose, Micrognathia, Cutis ma... OMIM:614219
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Microphthalmia, Neural tube defect, Anophthalmia, Facial cleft OMIM:600776
Chromosome 3Q13.31 Deletion Syndrome
Plagiocephaly, High palate, Brachycephaly, Alobar holoprosencephaly, Ventriculomegaly, Dolichocep... OMIM:615433
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Microphthalmia, Cleft palate, Central apnea, Abnormality iris morphology, Abn... ORPHA:1617
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Ventriculomegaly, Cleft palate, Micrognathia, Ag... OMIM:616570
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Retrognathia, Median cleft lip and palate, Short nose, Intrauterine growth retardation, ... ORPHA:1832
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft ala nasi, Dandy-Walker malformation, Microphthalmia, Cleft palate, A... OMIM:164180
Alobar Holoprosencephaly
Single naris, Cyclopia, High palate, Aspiration pneumonia, Bifid uvula, Hydrocephalus, Solitary m... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Single naris, Cyclopia, High palate, Aspiration pneumonia, Bifid uvula, Hydrocephalus, Solitary m... ORPHA:93926
Lobar Holoprosencephaly
Single naris, Cyclopia, High palate, Aspiration pneumonia, Bifid uvula, Hydrocephalus, Solitary m... ORPHA:93924
Semilobar Holoprosencephaly
Single naris, Cyclopia, High palate, Aspiration pneumonia, Bifid uvula, Hydrocephalus, Solitary m... ORPHA:220386
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Mandibular prognathia, Intrauterine... ORPHA:1908
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, High palate, Tooth malposition, Brachycephaly, Furrowed tongue, Malar flattening, Midfa... ORPHA:1387
Microphthalmia, Syndromic 12
Broad nasal tip, Retrognathia, Microphthalmia, Neonatal death, Cleft palate, Wide nasal bridge, M... OMIM:615524
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Brachyturricephaly, Choanal atresia, Optic nerve hypoplasia, Cleft pala... OMIM:607597
Global Developmental Delay With Or Without Impaired Intellectual Development
Plagiocephaly, Oligodontia, Lateral ventricle dilatation, Hypotelorism, Bulbous nose, Frontal bos... OMIM:618330
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Holoprosencephaly, Bilateral cleft lip, Bilateral cleft palate, Coloboma,... OMIM:601357
Craniosynostosis 6
Parietal foramina, Bicoronal synostosis, Plagiocephaly, Craniosynostosis, Brachycephaly, Turricep... OMIM:616602
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate, Cleft upper lip, Tessier number 4 facial cleft, Coloboma OMIM:600251
Band Heterotopia
Plagiocephaly, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Agenesis of corpus ... OMIM:600348
Cutis Laxa, Autosomal Recessive, Type Iib
High palate, Bruising susceptibility, Hydrocephalus, Malar flattening, Deeply set eye, Intrauteri... OMIM:612940
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Short nose, Lateral ventricle dilatation, Cleft palate, Tented upper lip vermili... OMIM:615716
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Open mouth, Deeply set eye, Short nose, Pierre-Robin sequence, Intrauterine growth r... OMIM:613604
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Colpocephaly, High palate, Ileus, Retrognathia, Hydrocephalus, Ventriculomegaly, High, narrow pal... OMIM:620156
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, High palate, Short nose, Death in infancy, Respiratory distress, H... OMIM:615042
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachycephaly, Short nose, Lobar holoprosencephaly, Submucous cleft hard palate, Ventriculomegaly... OMIM:614701
Anencephaly 2
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip, Anophthalmia,... OMIM:619452
Treacher-Collins Syndrome
Tooth agenesis, Choanal atresia, Cleft palate, Narrow mouth, Rectovaginal fistula, Cleft upper li... ORPHA:861
Frontonasal Dysplasia 3
Brachycephaly, Facial cleft, Underdeveloped nasal alae, Microphthalmia, Cleft palate, Wide nasal ... OMIM:613456
Distal Deletion 13Q
Encephalocele, Anal atresia, Iris coloboma, Holoprosencephaly, Anencephaly, Aplasia/Hypoplasia af... ORPHA:1590
Baraitser-Winter Syndrome 2
Retrognathia, Trigonocephaly, Microphthalmia, Ventriculomegaly, Long philtrum, Hypertelorism, Thi... OMIM:614583
1Q41Q42 Microdeletion Syndrome
Broad nasal tip, Deeply set eye, Underdeveloped nasal alae, Submucous cleft hard palate, Holopros... ORPHA:250999
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Death in childhood, Cataract, Hydrocephalus, Respiratory insufficiency, Dandy-Walker malformation... OMIM:613153
Oculomaxillofacial Dysostosis
Abnormality of the dentition, Underdeveloped nasal alae, Cleft palate, Abnormality of the nose, W... ORPHA:1794
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Erythema, Short nose, Lateral ventricle dilatation, Neonatal death... OMIM:610015
Agnathia-Otocephaly Complex
Tracheomalacia, Aglossia, Holoprosencephaly, Cleft palate, Wide nose, Mandibular aplasia, Narrow ... OMIM:202650
Pontocerebellar Hypoplasia, Type 13
High palate, Volvulus, Lateral ventricle dilatation, Anteverted nares, Macrodontia, Sleep apnea, ... OMIM:618606
Monosomy 18P
Tooth malposition, Brachycephaly, Holoprosencephaly, Microphthalmia, Cleft palate, Downturned cor... ORPHA:1598
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, High palate, Prominent nasal bridge, Umbilical hernia, Short nose, Hypotelorism,... OMIM:613544
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Craniosynostosis, Intrauterine growth retardation, Lateral ventricle dilatation, Cyanotic episode... ORPHA:284417
Cerebrooculonasal Syndrome
High palate, Brachycephaly, Facial cleft, Widely spaced teeth, Solitary median maxillary central ... ORPHA:66625
Trisomy 1Q
Anal atresia, Hydrocephalus, Wide nose, Ventriculomegaly, Cleft palate, Hypotelorism, Microretrog... ORPHA:261344
Holoprosencephaly 9
Solitary median maxillary central incisor, Optic nerve hypoplasia, Cleft palate, Hypotelorism, Si... OMIM:610829
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Bicoronal synostosis, Brachycephaly, Flat occiput, Optic nerve hypoplasia, Lateral ventricle dila... OMIM:618736
Alg2-Cdg
Cataract, Wide nasal bridge, Iris coloboma, Lateral ventricle dilatation ORPHA:79326
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Iris coloboma, Hydrocephalus, Facial cleft, Microphthalmia, Chorioretinal colobom... ORPHA:268249
Malan Overgrowth Syndrome
Plagiocephaly, High palate, Optic disc hypoplasia, Deeply set eye, Lateral ventricle dilatation, ... ORPHA:420179
Richieri-Costa/Guion-Almeida Syndrome
Iris coloboma, Palmoplantar cutis laxa, Brachycephaly, Malar flattening, Deeply set eye, Mandibul... OMIM:268850
Thanatophoric Dysplasia Type 2
Encephalocele, Cloverleaf skull, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Ven... ORPHA:93274
Meckel Syndrome, Type 8
Encephalocele, Short nose, Occipital encephalocele, Microphthalmia, Cleft palate, Depressed nasal... OMIM:613885
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Iris coloboma, Hydrocephalus, Holoprosencephaly, Microphthalmia, Sclerocornea... ORPHA:77298
Oculocerebrocutaneous Syndrome
Calvarial skull defect, Iris coloboma, Hydrocephalus, Facial cleft, Ventriculomegaly, Corneal opa... ORPHA:1647
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Anteriorly placed anus, Hydrocephalus, Submucous cleft hard palate, Intrauterine gro... OMIM:612863
Developmental And Epileptic Encephalopathy 87
High palate, Widely spaced teeth, Midface retrusion, U-Shaped upper lip vermilion, Hypotelorism, ... OMIM:618916
Chromosome 5P13 Duplication Syndrome
Craniosynostosis, High palate, Brachycephaly, Astigmatism, Hypotelorism, Downturned corners of mo... OMIM:613174
Congenital Hydrocephalus
Colpocephaly, Iris coloboma, Hydrocephalus, Ventriculomegaly, Bulbous nose, Frontal bossing, Macu... ORPHA:2185
Trisomy 13
Cataract, Calvarial skull defect, Abnormality of the dentition, Iris coloboma, Malar flattening, ... ORPHA:3378
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cataract, Hypertelorism, Facial cleft, Underdeveloped nasal alae, Hypoplasia of the frontal bone,... ORPHA:306542
Non-Distal Duplication 13Q
High palate, Abnormality of the dentition, Trigonocephaly, Short nose, Everted lower lip vermilio... ORPHA:1702
Mosaic Trisomy 9
Biparietal narrowing, High palate, Spina bifida, Facial cleft, Intrauterine growth retardation, M... ORPHA:99776
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:617967
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma, Anophthalmia OMIM:616428
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Micrognathia, Cleft palate, Respiratory distress, Upper airway obs... ORPHA:141152
Distal Monosomy 7Q36
Abnormal calvaria morphology, Holoprosencephaly, Cleft palate, Non-midline cleft lip, Micrognathi... ORPHA:1636
6P22 Microdeletion Syndrome
Hypotelorism, Abnormal palate morphology, Deeply set eye, Hydrocephalus ORPHA:251046
Walker-Warburg Syndrome
Cataract, Iris coloboma, Bifid uvula, Hydrocephalus, Dandy-Walker malformation, Submucous cleft h... ORPHA:899
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Plagiocephaly, Brachycephaly, Malar flattening, Deeply set eye, Mandibular prognathia, Anteverted... OMIM:618672
Martsolf Syndrome 2
Cataract, Broad nasal tip, Developmental cataract, Lateral ventricle dilatation OMIM:619420
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Hypoxemia, Holoprosencephaly, Intrauterine growth retardation, Semilobar holoprosenc... ORPHA:556955
Tonne-Kalscheuer Syndrome
Blue irides, Prominent nasal bridge, Malar flattening, Widely spaced teeth, Micrognathia, Hypotel... OMIM:300978
Alkuraya-Kucinskas Syndrome
Cataract, Plagiocephaly, High palate, Hydrocephalus, Short nose, Ventriculomegaly, Anteverted nar... OMIM:617822
Lambotte Syndrome
Retrognathia, Ocular anterior segment dysgenesis, Intrauterine growth retardation, Semilobar holo... OMIM:245552
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Partial agenesis of the corpus callosum, Intrauterine growth retardation, Microphthalmi... OMIM:616171
Trigonocephaly With Short Stature And Developmental Delay
High palate, Trigonocephaly, Lambdoidal craniosynostosis, Hypotelorism, Convex nasal ridge, Wide ... OMIM:314320
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Cyclopia, Iris coloboma, Holoprosencephaly, Microphthalmia, Hypotelorism, Median cleft lip, Orofa... ORPHA:3186
Prader-Willi Syndrome Due To Translocation
Triangular-shaped open mouth, Broad nasal tip, Bifid uvula, Cleft palate, Hypotelorism, Carious t... ORPHA:177907
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Lateral ventricle dilatation, Anteverted nares OMIM:300982
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Lateral ventricle dilatation, Micrognathia OMIM:618266
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Abnormal calvaria morphology, Respiratory insufficiency, Microphthalmia, Cor... ORPHA:2432
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Neonatal respiratory distress, Bifid uvula, Deep philtrum, Mandibular prognathia, Death in infanc... OMIM:618622
Frontonasal Dysplasia 2
Widely spaced teeth, Parietal foramina, Tessier number 13 facial cleft, Depressed nasal tip, Calv... OMIM:613451
Alg13-Cdg
Hypertelorism, Abnormal lateral ventricle morphology, Long philtrum, Anteverted nares ORPHA:324422
Pierpont Syndrome
Brachycephaly, Malar flattening, Excessive wrinkling of palmar skin, Wide nasal ridge, Deeply set... ORPHA:487825
Ritscher-Schinzel Syndrome 4
Plagiocephaly, High palate, Brachycephaly, Deeply set eye, Mild fetal ventriculomegaly, Narrow pa... OMIM:619435
Bainbridge-Ropers Syndrome
Broad nasal tip, Trigonocephaly, Scaphocephaly, Malar flattening, Short nose, Intrauterine growth... OMIM:615485
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Deeply set eye, Holoprosencephaly, Intrauterine growth retardation, Micrognathia ORPHA:2570
Chromosome 13Q14 Deletion Syndrome
High palate, Iris coloboma, Umbilical hernia, Deep philtrum, Holoprosencephaly, Microphthalmia, E... OMIM:613884
Microhydranencephaly, X-Linked
Holoprosencephaly, Intrauterine growth retardation OMIM:306990
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Lateral ventricle dilatation, Midface retrusion... OMIM:618291
Xk Aprosencephaly Syndrome
Anal atresia, Microphthalmia, Hypotelorism, Narrow mouth, Abnormal nostril morphology ORPHA:3469
Frontoocular Syndrome
Coronal craniosynostosis, High palate, Prominent nasal bridge, Trigonocephaly, Hypotelorism, Narr... OMIM:605321
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Multiple suture craniosynostosis, High palate, Trigonocephaly, Broad secondary alveolar ridge, Hy... ORPHA:3369
Endocrine-Cerebroosteodysplasia
Median cleft palate, Depressed nasal tip, Hydrocephalus, Deeply set eye, Holoprosencephaly, Ventr... OMIM:612651
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Jacobsen Syndrome
Iris coloboma, Pyloric stenosis, Hydrocephalus, Trigonocephaly, Flat occiput, Short nose, Holopro... OMIM:147791
49,Xxxxy Syndrome
Brachycephaly, Mandibular prognathia, Holoprosencephaly, Taurodontia, Abnormal dental enamel morp... ORPHA:96264
Microphthalmia With Brain And Digit Anomalies
Cataract, High palate, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Sclerocornea, Agene... ORPHA:139471
Perching Syndrome
Cyanosis, Depressed nasal bridge, Respiratory distress, High palate OMIM:617055
Warburg Micro Syndrome 1
Deeply set eye, Enlarged sylvian cistern, Anteverted nares, Microphthalmia, Narrow mouth, Thin ve... OMIM:600118
Trichothiodystrophy 3, Photosensitive
Cataract, Eclabion, Pyloric stenosis, Trigonocephaly, Intrauterine growth retardation, Microphtha... OMIM:616395
Hypertelorism, Microtia, Facial Clefting Syndrome
Broad nasal tip, Facial cleft, Bifid nose, Cleft palate, Narrow mouth, Micrognathia, Cleft upper ... OMIM:239800
Intellectual Developmental Disorder, Autosomal Dominant 48
Plagiocephaly, Open mouth, Prominent nasal bridge, Umbilical hernia, Tracheobronchomalacia, Intra... OMIM:617751
Stromme Syndrome
Optic nerve hypoplasia, Cleft palate, Peters anomaly, Iris coloboma, Hydrocephalus, Jejunal atres... OMIM:243605
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Open mouth, Lateral ventricle dilatation OMIM:616816
Distal Deletion 10Q
Craniosynostosis, Anal atresia, High palate, Brachycephaly, Prominent nasal bridge, Astigmatism, ... ORPHA:96148
Joubert Syndrome 3
Open mouth, Neonatal breathing dysregulation, Lateral ventricle dilatation, Anteverted nares, Epi... OMIM:608629
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Retrognathia, Hypertelorism, Mandibular prognathia, Exaggerated ... ORPHA:464738
2Q23.1 Microduplication Syndrome
Abnormality of the dentition, Astigmatism, Midface retrusion, Dental crowding, Hypotelorism, Thin... ORPHA:313947
Halperin-Birk Syndrome
Death in childhood, Colpocephaly, High palate, Aspiration, Umbilical hernia, Intrauterine growth ... OMIM:618651
Cranioectodermal Dysplasia
Craniosynostosis, Abnormality of the dentition, Taurodontia, Microdontia, Anteverted nares, Promi... ORPHA:1515
Dihydropyrimidine Dehydrogenase Deficiency
Agenesis of corpus callosum, Microphthalmia, Coloboma OMIM:274270
Ritscher-Schinzel Syndrome 1
Anal atresia, Brachycephaly, Hydrocephalus, Hypertelorism, Intrauterine growth retardation, Decre... OMIM:220210
Trigonocephaly 1
Craniosynostosis, Trigonocephaly, Short nose, High, narrow palate, Hypotelorism, Long philtrum, W... OMIM:190440
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, High palate, Retrognathia, Brachycephaly, Microphthalmia, Narrow mouth, Microcornea ORPHA:2528
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Tented upper lip vermilion, Long philtrum, Brachycephaly, Lateral ventricle dilatation OMIM:619972
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Cataract, Hydrocephalus, Megalocornea, Occipital encephalocele, Decreased thalamic ... ORPHA:370959
Paganini-Miozzo Syndrome
Malar flattening, Deeply set eye, Mandibular prognathia, Lateral ventricle dilatation, Downturned... OMIM:301025
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Sleep apnea, Hypotelorism, Dental malocclusion, Incisor macrodontia, Cutis marmo... OMIM:619719
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Intrauterine growth retardation, Wide nose, Depressed nasa... ORPHA:488635
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
High palate, Ventriculomegaly, Hypotelorism, Wide nasal bridge, Depressed nasal bridge OMIM:615760
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Retrognathia, Umbilical hernia, Mandibular prognathia, Microphthalmia, Lateral ven... OMIM:618914
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Long nose, Broad nasal tip, High palate, Brachycephaly, Low insertion of columella, Lateral ventr... OMIM:619995
Trisomy 18P
Pyloric stenosis, Underdeveloped nasal alae, Intrauterine growth retardation, Midface retrusion, ... ORPHA:1715
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Respiratory insufficiency, Death in infancy, Lateral ventricle dilatation OMIM:617668
Joubert Syndrome 14
Encephalocele, Open mouth, Prominent nasal bridge, Hydrocephalus, Meningocele, Deeply set eye, Ma... OMIM:614424
Keppen-Lubinsky Syndrome
High palate, Open mouth, Abnormally large globe, Respiratory insufficiency, Underdeveloped nasal ... OMIM:614098
Biemond Syndrome Type 2
Coloboma, Microphthalmia, Hydrocephalus ORPHA:141333
Cofs Syndrome
Cataract, Abnormal nasal morphology, Death in infancy, Intrauterine growth retardation, Microphth... ORPHA:1466
Temtamy Syndrome
Ectopia lentis, Iris coloboma, Hypoplasia of teeth, Lens luxation, Microphthalmia, Ventriculomega... OMIM:218340
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Lateral ventricle dilatation ORPHA:77299
Intellectual Developmental Disorder, Autosomal Recessive 13
Hypotelorism, Downturned corners of mouth, Smooth philtrum, Wide nasal bridge, Short philtrum, Cl... OMIM:613192
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Cloverleaf skull, Platybasia, Microphthalmia, Downturned corners of mouth, Wide nasal b... ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iig
High palate, Pierre-Robin sequence, Intrauterine growth retardation, Lateral ventricle dilatation... OMIM:611209
Acrofacial Dysostosis, Catania Type
Abnormality of the dentition, Tooth agenesis, Abnormal palate morphology, Short nose, Intrauterin... ORPHA:1786
Li-Ghorbani-Weisz-Hubshman Syndrome
Prominent nasal bridge, Ventriculomegaly, Hypotelorism, Downturned corners of mouth, Thick vermil... OMIM:618974
Pierpont Syndrome
Broad nasal tip, Brachycephaly, Malar flattening, Deeply set eye, Short nose, Widely spaced teeth... OMIM:602342
Meckel Syndrome 14
Retrognathia, Occipital encephalocele, Holoprosencephaly, Cardiorespiratory arrest, Microphthalmi... OMIM:619879
Premature Aging Syndrome, Penttinen Type
Shallow orbits, Elevated circulating thyroid-stimulating hormone concentration, Hypotelorism, Thi... OMIM:601812
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Unilateral cleft lip, Malar flattening, Flat occiput, Mandibular prognathia, Abnor... ORPHA:2511
Baraitser-Winter Syndrome 1
Retrognathia, Iris coloboma, Trigonocephaly, Short nose, Microphthalmia, Ventriculomegaly, Anteve... OMIM:243310
Vissers-Bodmer Syndrome
Holoprosencephaly, Intrauterine growth retardation OMIM:619033
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Conical tooth, Calvarial skull defect, Coronal craniosynostosis, Abnormality of th... ORPHA:228390
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Plagiocephaly, Brachycephaly, Partial agenesis of the corpus callosum, Deeply set eye, Astigmatis... OMIM:617296
D-2-Hydroxyglutaric Aciduria 1
Lateral ventricle dilatation, Apnea, Subependymal cysts, Micrognathia, Frontal bossing, Inspirato... OMIM:600721
Glutathionuria
Hypotelorism, Asthma, Agenesis of corpus callosum OMIM:231950
Pde4D Haploinsufficiency Syndrome
Brachycephaly, Hypertelorism, Malar flattening, Short nose, Mandibular prognathia, Intrauterine g... ORPHA:439822
Intellectual Developmental Disorder, Autosomal Recessive 5
Prominent nasal bridge, Underdeveloped nasal alae, Hypotelorism, Smooth philtrum, Wide nasal brid... OMIM:611091
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Cataract, Anal atresia, Abnormality of the dentition, Brachycephaly, Bifid uvula, Astigmatism, Ch... OMIM:300968
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation ORPHA:306669
Tetrasomy 5P
High palate, Pulmonary arterial hypertension, Hydrocephalus, Short nose, Wide anterior fontanel, ... ORPHA:3309
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Oligodontia, Dorsocervical fat pad, Hypoplasia of teeth, Short nose, Intrauterine growth retardat... ORPHA:391408
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, High palate, Pyloric stenosis, Astigmatism, Short nose, Submucous cleft hard palat... ORPHA:457279
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation, Everted lower lip vermilion, Tented upper lip vermilion, Long philt... OMIM:620075
Short Stature-Micrognathia Syndrome
Cataract, High palate, Retrognathia, Astigmatism, Intrauterine growth retardation, Cleft palate, ... OMIM:617164
Severe X-Linked Intellectual Disability, Gustavson Type
Short nose, Lateral ventricle dilatation, Dilated fourth ventricle, Micrognathia, Recurrent upper... ORPHA:3078
Auriculocondylar Syndrome 2
Snoring, Temporomandibular joint ankylosis, Short mandibular rami, Cleft palate, Dental crowding,... OMIM:614669
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Pontocerebellar Hypoplasia, Type 1A
Respiratory insufficiency, Tongue fasciculations, Intercostal muscle weakness, Lateral ventricle ... OMIM:607596
Craniotelencephalic Dysplasia
Craniosynostosis, Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Fr... ORPHA:1528
Supernumerary Nostril
Choanal atresia, Abnormality of ethmoid sinus, Developmental cataract, Supernumerary naris, Micro... ORPHA:141096
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Death in childhood, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Tented... OMIM:619517
Non-Syndromic Metopic Craniosynostosis
Trigonocephaly, Hypotelorism, Wide nasal bridge ORPHA:3366
Muscle-Eye-Brain Disease
Meningocele, Cataract, Holoprosencephaly, Hydrocephalus ORPHA:588
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge OMIM:614019
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Hydrocephalus, Respiratory insufficiency due to muscle weakness... OMIM:615249
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Abnormality of the dentition, Deeply set eye, Hypotelorism, Microret... ORPHA:276422
Hartsfield Syndrome
Craniosynostosis, Lobar holoprosencephaly, Semilobar holoprosencephaly, Alobar holoprosencephaly,... OMIM:615465
Hadziselimovic Syndrome
Anal atresia, High palate, Prominent nasal bridge, Anteverted nares, U-Shaped upper lip vermilion... OMIM:612946
Bresek Syndrome
Plagiocephaly, Iris coloboma, Hydrocephalus, Intrauterine growth retardation, Microphthalmia, Neo... ORPHA:85284
Vici Syndrome
Cataract, Depressed nasal tip, High palate, Death in infancy, Hypotelorism, Agenesis of corpus ca... ORPHA:1493
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Microphthalmia, Ventriculomegaly, Smooth philtrum, Cutis marmorata, Depressed nasa... OMIM:602501
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Broad nasal tip, Prominent nasal bridge, Anteverted nares, Everted lower lip vermilion, Abnormal ... ORPHA:411986
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Colpocephaly, Plagiocephaly, High palate, Hydrocephalus, Short nose, Deep philtrum, Int... OMIM:619833
Amyotrophy, Hereditary Neuralgic
Deeply set eye, Cleft palate, Hypotelorism, Narrow mouth, Depressed nasal bridge, Long nasal bridge OMIM:162100
Coach Syndrome 2
Hydrocephalus, Chorioretinal coloboma, Coloboma, Agenesis of corpus callosum, Apneic episodes in ... OMIM:619111
Isolated Exencephaly
Abnormal calvaria morphology, Abnormal facial skeleton morphology, Hypoplasia of the frontal bone... ORPHA:563612
Beare-Stevenson Cutis Gyrata Syndrome
Cloverleaf skull, Bifid uvula, Choanal atresia, Ventriculomegaly, Narrow mouth, Narrow palate, Pa... OMIM:123790
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Partial agenesis of the corpus callosum, Intrauterine growth retar... ORPHA:79243
Fraser Syndrome 1
Difficulty in tongue movements, Cleft palate, Cleft upper lip, Facial cleft, Calvarial skull defe... OMIM:219000
Mosaic Variegated Aneuploidy Syndrome
Cataract, Duodenal atresia, Colon cancer, Intestinal polyposis, Holoprosencephaly, Intrauterine g... ORPHA:1052
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Depressed nasal tip, Retrognathia, Lateral ventricle dilatation, Thick nasal alae, Smooth philtru... ORPHA:293725
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Abnormal palate morphology, Brachycephaly, Iris coloboma, Facial cleft, Mandibular prognathia, Mi... ORPHA:1236
Aicardi Syndrome
Cataract, Choroid plexus cyst, Partial agenesis of the corpus callosum, Spina bifida, Hiatus hern... OMIM:304050
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal calvaria morphology, Intrauterine growth retardation, Wide nose, Prominent occiput, Resp... ORPHA:89844
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
High palate, Brachycephaly, Lateral ventricle dilatation, Tented upper lip vermilion, Long philtr... OMIM:619244
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Brachycephaly, Umbilical hernia, Intrauterine growth retardation, Hypotelorism, Narrow ... OMIM:219150
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Trigonocephaly, Short nose, Deep philtrum, Respiratory distress, Hypotelorism, Denta... ORPHA:329178
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Craniosynostosis, Retrognathia, Bilateral microphthalmos, Prominent nasal bridge, Duodenal atresi... ORPHA:468631
Intellectual Developmental Disorder, Autosomal Dominant 7
Deeply set eye, Intrauterine growth retardation, Hypotelorism, Smooth philtrum, Micrognathia, Bul... OMIM:614104
Monosomy 13Q14
Cataract, Iris coloboma, Prominent nasal bridge, Trigonocephaly, Holoprosencephaly, Intrauterine ... ORPHA:1587
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Cloverleaf skull, Tooth agenesis, Anteriorly placed anus, Hydrocephalus, Malar ... ORPHA:1555
Mosaic Trisomy 1
Short upper lip, Microphthalmia, Lateral ventricle dilatation, Cleft palate, Microretrognathia, W... ORPHA:1692
X-Linked Intellectual Disability, Wilson Type
Brachycephaly, Mandibular prognathia, Lateral ventricle dilatation, Thick vermilion border, Wide ... ORPHA:85290
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Colpocephaly, Tachypnea, Meningocele, Occipital encephalocele, Lateral ventricle dilatation, Vent... ORPHA:397715
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
High palate, Lobar holoprosencephaly, Intrauterine growth retardation, Semilobar holoprosencephal... OMIM:618500
16P11.2P12.2 Microdeletion Syndrome
Long nose, Open mouth, Deeply set eye, Short nose, Intrauterine growth retardation, Absent nasal ... ORPHA:261211
Ring Chromosome 7 Syndrome
Median cleft palate, Plagiocephaly, Brachycephaly, Prominent nasal bridge, Bifid uvula, Malar fla... ORPHA:1449
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Cleft palate, Chorioretinal coloboma, Cleft upper lip OMIM:120433
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Trichothiodystrophy
Keratoconjunctivitis sicca, Ventriculomegaly, Hypotelorism, Carious teeth, Bronchospasm, Hypoplas... ORPHA:33364
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Tooth agenesis, Choanal atresia, Ventriculomegaly, Cleft palate, Supernumer... ORPHA:818
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation, Optic nerve hypoplasia OMIM:618890
Intellectual Developmental Disorder, Autosomal Dominant 56
Open mouth, High palate, Lateral ventricle dilatation, Long philtrum, Thin upper lip vermilion OMIM:617854
Otodental Syndrome
Abnormal dental pulp morphology, Periodontitis, Odontoma, Carious teeth, Iris coloboma, Microphth... ORPHA:2791
Temtamy Syndrome
Abnormal palate morphology, Iris coloboma, Microphthalmia, Dolichocephaly, Chorioretinal coloboma... ORPHA:1777
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Meckel Syndrome
Encephalocele, Cataract, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Lobar holoprosencephaly... ORPHA:564
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Prominent nasal bridge, Astigmatism, Micrognathia, Ventriculomegaly, Midface retrusion, Narrow mo... OMIM:618659
Cach Syndrome
Cataract, T2 hypointense thalamus, Intrauterine growth retardation, Lateral ventricle dilatation ORPHA:135
Cerebrooculofacioskeletal Syndrome 1
Death in childhood, Cataract, Prominent nasal bridge, Deeply set eye, Microphthalmia, Ventriculom... OMIM:214150
15Q24 Microdeletion Syndrome
Anal atresia, Abnormality of the dentition, Wide nasal base, Prominent nasal bridge, Abnormal pal... ORPHA:94065
Otodental Dysplasia
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Anteverted nares, Long phi... OMIM:166750
Holoprosencephaly 4
Depressed nasal tip, Median cleft lip and palate, Semilobar holoprosencephaly, Absent nasal septa... OMIM:142946
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Duodenal atresia, Cleft lip, Hypertelorism, Deeply set eye, Choanal atresia, Intraut... OMIM:616975
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Cataract, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Microphthal... OMIM:253800
Oculodentodigital Dysplasia
Tooth agenesis, Cleft palate, Hypotelorism, Carious teeth, Broad alveolar ridges, Short nose, Nar... ORPHA:2710
Pallister-Hall Syndrome
Anal atresia, Anteriorly placed anus, Short nose, Choanal atresia, Holoprosencephaly, Intrauterin... OMIM:146510
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Microphthalmia, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis OMIM:610023
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventriculomegaly, Cleft palate, Hypotelorism, Smooth philtrum, Pulmonary arterial hypertension, L... OMIM:618454
Multiple Pterygium-Malignant Hyperthermia Syndrome
Plagiocephaly, Dyspnea, Prominent nasal bridge, Cleft palate, Midface retrusion, Hypotelorism, Pr... ORPHA:2215
Steinfeld Syndrome
Iris coloboma, Bifid uvula, Median cleft lip and palate, Holoprosencephaly, Microphthalmia, Retin... OMIM:184705
Meckel Syndrome, Type 1
Occipital encephalocele, Ventriculomegaly, Cleft palate, Hypotelorism, Smooth philtrum, Lobulated... OMIM:249000
Verheij Syndrome
Broad nasal tip, Retrognathia, Short nose, Intrauterine growth retardation, Optic nerve hypoplasi... OMIM:615583
Harrod Syndrome
Cataract, Long nose, High palate, Intrauterine growth retardation, Hypotelorism, Dental malocclus... ORPHA:2115
Baller-Gerold Syndrome
Anal atresia, High palate, Brachycephaly, Prominent nasal bridge, Anteriorly placed anus, Malabso... ORPHA:1225
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, High palate, Brachycephaly, Short nose, Wide anterior fontanel, Microphthalmia, Antever... ORPHA:163649
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Plagiocephaly, High palate, Brachycephaly, Partial agenesis of the corpus callosum, Hydrocephalus... OMIM:619512
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Plagiocephaly, High palate, Partial agenesis of the corpus callosum, Flat occiput, Lateral ventri... ORPHA:300570
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Anal atresia, Hydrocephalus, Megalocornea, Occipital encephalocele, Dandy-Walker malfor... OMIM:236670
Cog5-Cdg
High palate, Retrognathia, Intrauterine growth retardation, Lateral ventricle dilatation, Prematu... ORPHA:263487
Craniosynostosis 2
Craniosynostosis, Bicoronal synostosis, Cleft soft palate, Brachycephaly, Trigonocephaly, Unicoro... OMIM:604757
Microphthalmia With Limb Anomalies
High palate, Retrognathia, Short nose, Deep philtrum, Flared nostrils, Microphthalmia, Cleft pala... OMIM:206920
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Plagiocephaly, Brachycephaly, Holoprosencephaly, Hypotelorism ORPHA:2163
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Retrognathia, Deeply set eye, Celiac disease, Lateral ventricle dilatation, Dysplastic corpus cal... ORPHA:544488
Pfeiffer Syndrome Type 2
Cloverleaf skull, Anal atresia, High palate, Intestinal malrotation, Tracheomalacia, Hydrocephalu... ORPHA:93259
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Bul... OMIM:618779
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Isolated Arrhinia
Midline defect of the nose, Hypoplasia of the nasal bone, Facial cleft, Underdeveloped nasal alae... ORPHA:1134
Schilbach-Rott Syndrome
Long nose, Bifid uvula, Submucous cleft hard palate, Hypotelorism, Narrow mouth, Micrognathia, Pr... OMIM:164220
Polymicrogyria Due To Tubb2B Mutation
Agenesis of corpus callosum, Lateral ventricle dilatation ORPHA:300573
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in childhood, Cataract, Retrognathia, Partial agenesis of the corpus callosu... OMIM:614643
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Duodenal atresia, Deeply set eye, Short nose, Intrauterine growth retardation, ... OMIM:614114
Weyers Acrofacial Dysostosis
Conical tooth, Hypotelorism, Solitary median maxillary central incisor OMIM:193530
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Oligodontia, Intrauterine growth retardation, Hypotelorism, Narrow mouth, Downturned corners of m... OMIM:616817
Chromosome 13Q33-Q34 Deletion Syndrome
Trigonocephaly, Choanal atresia, Brachycephaly, Irregular dentition, Microphthalmia, Delayed erup... OMIM:619148
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Short nose, Death in infancy, Intrauterine growth retardation, Microphthalmia, Mic... ORPHA:163966
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Median cleft lip and palate, Respiratory insufficiency, Holoprosencephaly, Intraut... OMIM:269860
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Solitary median maxillary central incisor, Cleft palate, Hypotelorism, Micrognathia,... OMIM:602418
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Long nose, Deeply set eye, Mandibular prognathia, Ventriculomegaly, Hypotelorism, Short philtrum,... OMIM:300486
Marbach-Schaaf Neurodevelopmental Syndrome
Plagiocephaly, Broad nasal tip, Astigmatism, Submucous cleft hard palate, Hypotelorism, Downturne... OMIM:619680
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Wide nasal bridge, Neonatal death OMIM:614870
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Anterior polar cataract, Lateral ventricle dilatation, High, narrow palate, Depres... OMIM:619575
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Neuralgic Amyotrophy
Respiratory insufficiency, Narrow mouth, Acrocyanosis, Cleft palate ORPHA:2901
Kohlschutter-Tonz Syndrome-Like
Brachycephaly, Death in adolescence, Widely spaced teeth, Amelogenesis imperfecta, Intrauterine g... OMIM:619229
Frontofacionasal Dysplasia
Cataract, Midline defect of the nose, Iris coloboma, Brachycephaly, Bifid uvula, Hypertelorism, M... OMIM:229400
Ring Chromosome 21 Syndrome
Holoprosencephaly, Cutaneous photosensitivity ORPHA:1445
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Hypotelorism, High palate OMIM:616281
Wars2-Related Combined Oxidative Phosphorylation Defect
High palate, Intrauterine growth retardation, Lateral ventricle dilatation, Ventriculomegaly, Wid... ORPHA:572798
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Cyanosis, Inspiratory stridor... OMIM:207950
Cockayne Syndrome Type 2
Widely spaced primary teeth, Anodontia, Mandibular prognathia, Intrauterine growth retardation, E... ORPHA:90322
Cerebrooculofacioskeletal Syndrome 2
Death in childhood, Cataract, Deeply set eye, Intrauterine growth retardation, Microphthalmia, Co... OMIM:610756
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Hypotelorism, Abnormal calvaria morphology ORPHA:1952
Microphthalmia, Syndromic 5
Cataract, Microphthalmia, Optic nerve hypoplasia, Cleft palate, Ectopic posterior pituitary, Anop... OMIM:610125
Galloway-Mowat Syndrome
Abnormality of the dentition, Hiatus hernia, Aqueductal stenosis, Intrauterine growth retardation... ORPHA:2065
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Plagiocephaly, Tooth agenesis, Midface retrusion, Anteverted nares, Macrodontia, Do... OMIM:618731
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Deeply set eye, Intrauterine growth retardation, Respiratory distress, Thin vermilion border, Wid... ORPHA:261304
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Iris coloboma, Malar flattening, Cleft palate, Chorioretinal coloboma... ORPHA:921
Frontorhiny
Encephalocele, Hypopituitarism, Cataract, Iris coloboma, Hypoplastic frontal sinuses, Microphthal... ORPHA:391474
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
High palate, Underdeveloped nasal alae, Midface retrusion, Hypotelorism, Wide mouth, Micrognathia... OMIM:300986
Vacterl With Hydrocephalus
Esophageal atresia, Anal atresia, Retrognathia, Spina bifida, Hydrocephalus, Tracheoesophageal fi... ORPHA:3412
Vici Syndrome
Median cleft palate, Cataract, High palate, Developmental cataract, Cleft palate, Wide nose, Hypo... OMIM:242840
Sandestig-Stefanova Syndrome
High palate, Retrognathia, Trigonocephaly, Intrauterine growth retardation, Microphthalmia, Ventr... OMIM:618804
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Frontal bossing, Downturned corners of mouth, Hypotelorism OMIM:618718
Orofaciodigital Syndrome Type 5
Cleft soft palate, Abnormality of the philtrum, Bifid uvula, Enamel hypoplasia, Aganglionic megac... ORPHA:2919
Nasopalpebral Lipoma-Coloboma Syndrome
Hypertelorism, Microphthalmia, Conjunctival hyperemia, Dolichocephaly, Wide nasal bridge, Depress... OMIM:167730
Noonan Syndrome 14
Prominent nasal bridge, Bruising susceptibility, Lateral ventricle dilatation, High, narrow palat... OMIM:619745
Acrocallosal Syndrome
Bifid uvula, Cleft palate, Narrow mouth, Prominent palatine ridges, Thin vermilion border, Smooth... OMIM:200990
Robinow Syndrome, Autosomal Dominant 2
Oligodontia, Calvarial osteosclerosis, Cleft palate, Short nose, Proptosis, Triangular mouth, Thi... OMIM:616331
Orofaciodigital Syndrome Xix
Cleft soft palate, High palate, Retrognathia, Bifid nasal tip, Underdeveloped nasal alae, Tongue ... OMIM:620107
Acrofacial Dysostosis, Weyers Type
Conical tooth, Abnormality of the dentition, Solitary median maxillary central incisor, Advanced ... ORPHA:952
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Cleft lip, Astigmatism, Short nose, Deep philtrum, Microphthalmia, Cleft palate, Micror... OMIM:618571
Branchio-Oculo-Facial Syndrome
Cataract, Broad nasal tip, High palate, Tooth agenesis, Iris coloboma, Premature graying of hair,... ORPHA:1297
Trichothiodystrophy 8, Nonphotosensitive
Retrognathia, Hypotelorism, Long philtrum, Prominent nose, Thin upper lip vermilion OMIM:619691
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Microphthalmia, Hydrocephalus OMIM:614830
Genitourinary And/Or Brain Malformation Syndrome
Colpocephaly, Ileal atresia, Jejunal atresia, Short nose, Astigmatism, Holoprosencephaly, Microgn... OMIM:618820
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Joubert Syndrome 16
Encephalocele, Hypertelorism, Dandy-Walker malformation, Coloboma OMIM:614465
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Tooth malposition, Iris coloboma, Absent nares, Bifid uvula, Submucous cleft hard palat... ORPHA:2250
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Cat-Eye Syndrome
Anal atresia, Iris coloboma, Intrauterine growth retardation, Microphthalmia, Chorioretinal colob... ORPHA:195
Hallermann-Streiff Syndrome
Platybasia, Selective tooth agenesis, Parietal bossing, Narrow mouth, Narrow palate, Dolichocepha... OMIM:234100
Joubert Syndrome 23
Tachypnea, Coloboma, Apnea, Dysplastic corpus callosum OMIM:616490
Joubert Syndrome 15
Exencephaly, Coloboma OMIM:614464
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Mandibular prognathia, Hypotelorism, Narrow nasal bridge, Micrognathi... ORPHA:3082
Restrictive Dermopathy 2
Intrauterine growth retardation, Rectal prolapse, Respiratory distress, Microretrognathia, Propto... OMIM:619793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly, Posterior synechiae of the anterio... OMIM:613154
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Short nose, Microphthalmia, Long philtrum, Agenesis of corpus ca... OMIM:300887
Charge Syndrome
Abnormal soft palate morphology, Choanal atresia, Cleft palate, Narrow mouth, Anosmia, Cleft uppe... ORPHA:138
Lig4 Syndrome
Chronic sinusitis, Brachycephaly, Astigmatism, Telangiectasia, Hypotelorism, Wide nasal bridge, P... OMIM:606593
Congenital Toxoplasmosis
Jaundice, Hydrocephalus, Intrauterine growth retardation, Microphthalmia, Ventriculomegaly ORPHA:858
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth OMIM:300934
Tetraamelia-Multiple Malformations Syndrome
Cataract, Anal atresia, Iris coloboma, Hydrocephalus, Aplasia/Hypoplasia involving the nose, Sept... ORPHA:3301
Congenital Myopathy 10A, Severe Variant
High palate, Restrictive ventilatory defect, Respiratory insufficiency, Cleft palate, Respiratory... OMIM:614399
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Retrognathia, Dyspnea, Hydrocephalus, Abnormality of the anus, Abnormal dental enamel m... ORPHA:2556
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Bartsocas-Papas Syndrome 1
Anal atresia, Corneal ulceration, Facial cleft, Short nose, Underdeveloped nasal alae, Intrauteri... OMIM:263650
Giacheti Syndrome
Hypotelorism OMIM:612917
Koolen-De Vries Syndrome
Cataract, High palate, Open mouth, Iris hypopigmentation, Prominent nasal bridge, Pyloric stenosi... OMIM:610443
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, High palate, Pulmonary arterial hypertension, Retrognathia, Microphthalmia, Cleft palat... OMIM:616449
Amish Lethal Microcephaly
Spina bifida, Death in infancy, Ventriculomegaly, Micrognathia, Cleft soft palate, Agenesis of co... ORPHA:99742
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Plagiocephaly, High palate, Flat occiput, Short nose, Ventriculomegaly, Anteverted nares, Tented ... OMIM:619383
Acrootoocular Syndrome
Grayish enamel, Wide nasal base, Anodontia, Decreased response to growth hormone stimulation test... ORPHA:2980
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Neonatal respiratory distress, Hypotelorism, High palate, Microphthalmia OMIM:619053
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Bilateral cleft lip and palate, Iris coloboma, Microphthalmia, Chorioretinal coloboma, ... ORPHA:1473
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Choanal atresia, Microphthalm... ORPHA:1135
Scalp-Ear-Nipple Syndrome
Cataract, Calvarial skull defect, Iris coloboma, Bifid uvula, Agenesis of permanent teeth, Mandib... OMIM:181270
Neurooculocardiogenitourinary Syndrome
Prominent nasal bridge, Microphthalmia, Downturned corners of mouth, Smooth philtrum, Coloboma, P... OMIM:618652
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus OMIM:602200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Irregular dentition, Cleft palate, Hypotelorism, Narrow nose, Smooth philtrum, Mic... OMIM:615656
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Developmental cataract, Microphthalmia, Hydrocephalus OMIM:613155
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma, Microphthalmia, Hydrocephalus OMIM:601794
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Deeply set eye, Coloboma, Anteverted nares, Sleep apnea, Long philtrum, Thin vermil... ORPHA:464288
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Iniencephaly
Encephalocele, Spinal dysraphism, Anal atresia, Duodenal atresia, Spina bifida, Myelomeningocele,... ORPHA:63259
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Plagiocephaly, Open mouth, Brachycephaly, Hypertelorism, Everted lower lip vermilio... OMIM:616789
Smith-Lemli-Opitz Syndrome
Bifid uvula, Cleft palate, Severe photosensitivity, Microglossia, Broad alveolar ridges, Hydrocep... OMIM:270400
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Brachycephaly, Malar flattening, Underdeveloped nasal alae, Micrognathia, Ve... ORPHA:264200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Malar prominence, Intrauterine growth retardation, Microphthalmia, Ventriculomegaly, Mi... ORPHA:48431
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Oligodontia, Ankyloglossia, Widely spaced teeth, Ventriculomegaly, Thin vermilio... OMIM:615873
Microphthalmia, Syndromic 8
Mandibular prognathia, Microphthalmia, Cleft palate, Premature skin wrinkling, Microcornea, Cleft... OMIM:601349
Abruzzo-Erickson Syndrome
Cleft palate, Coloboma OMIM:302905
Braddock Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Intrauterine growth retardation, ... ORPHA:52047
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Retrognathia, Deeply set eye, Short nose, Choanal atresia, Intrauterine growth retardation, Semil... OMIM:301044
Stevenson-Carey Syndrome
Brachycephaly, Underdeveloped nasal alae, Microphthalmia, Anteverted nares, Central hypoventilati... OMIM:611961
Oculofaciocardiodental Syndrome
Cataract, Oligodontia, Abnormality of the dentition, Tooth malposition, Prominent nasal bridge, I... ORPHA:2712
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
Saethre-Chotzen Syndrome
Craniosynostosis, Plagiocephaly, Prominent nasal bridge, Brachycephaly, Cleft palate, Sleep apnea... ORPHA:794
Short Stature, Microcephaly, And Endocrine Dysfunction
Cataract, Long nose, Broad nasal tip, Tooth malposition, Prominent nasal bridge, Deeply set eye, ... OMIM:616541
Congenital Disorder Of Glycosylation, Type Iif
Flat occiput, Deeply set eye, Hypotelorism, Short philtrum, Subcutaneous hemorrhage OMIM:603585
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Broad nasal tip, Abnormality of the dentition, Short nose, Anteverted nares, M... OMIM:618529
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Depressed nasal tip, Bilateral microphthalmos, Microphthalmia, Wide nose, Conjunctival ... ORPHA:2399
Pfeiffer Syndrome Type 3
Anal atresia, High palate, Intestinal malrotation, Tracheomalacia, Brachyturricephaly, Short nose... ORPHA:93260
Curry-Jones Syndrome
Craniosynostosis, Iris coloboma, Microphthalmia, Ventriculomegaly, Optic disc coloboma, Intestina... ORPHA:1553
Microphthalmia, Syndromic 3
Cataract, Esophageal atresia, Optic nerve aplasia, Microphthalmia, Optic nerve hypoplasia, Hypoth... OMIM:206900
1Q21.1 Microdeletion Syndrome
Cataract, High palate, Iris coloboma, Hydrocephalus, Ankyloglossia, Deeply set eye, Intrauterine ... ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Macroglossia, Cataract, Hydrocephalus, Death in infancy, Microphthalmia, Buphthalm... OMIM:613150
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Orofaciodigital Syndrome Xiv
Lobulated tongue, Anteriorly placed anus, Partial agenesis of the corpus callosum, Cleft lip, Tri... OMIM:615948
Gombo Syndrome
Microphthalmia OMIM:233270
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Cleft palate, Hypotelorism, Anosmia, Cleft upper lip OMIM:244200
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Ven... OMIM:617397
Joubert Syndrome 2
Encephalocele, High palate, Hydrocephalus, Neonatal breathing dysregulation, Microphthalmia, Epis... OMIM:608091
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Death in infancy, Pneumonia OMIM:254120
Slc35A2-Cdg
Craniosynostosis, Intrauterine growth retardation, Lateral ventricle dilatation, Elevated circula... ORPHA:356961
Marden-Walker Syndrome
High palate, Pyloric stenosis, Wide anterior fontanel, Intrauterine growth retardation, Microphth... OMIM:248700
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma OMIM:618295
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Brachycephaly, Microphthalmia, Coloboma, Depressed nasal bridge, Hypertelorism OMIM:612379
Gabriele-De Vries Syndrome
High palate, Broad nasal tip, Abnormality of the dentition, Malar flattening, Intrauterine growth... OMIM:617557
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
High palate, Malar flattening, Widely spaced teeth, Death in infancy, Microdontia, Lateral ventri... OMIM:300868
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Tracheomalacia, Anteriorly placed anus, Short nose, Wide anterior ... OMIM:217980
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Neonatal respiratory distress, High palate, Malar flattening, Deeply set eye, Hypotelorism, Narro... OMIM:602471
Wiedemann-Rautenstrauch Syndrome
Parietal bossing, Hypotelorism, Narrow mouth, Thin vermilion border, Smooth philtrum, Brachycepha... OMIM:264090
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Deeply set eye, Microphthalmia, Smooth philtrum, Micrognathia, Cleft soft pal... OMIM:614526
Obsolete: Arnold-Chiari Malformation Type Ii
Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, Hydrocephalus, Aqueductal... ORPHA:1136
Pontocerebellar Hypoplasia, Type 11
Bulbous nose, Anal atresia, Agenesis of corpus callosum, Coloboma OMIM:617695
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Iris coloboma, Hydrocephalus, Communicating hydrocephalus, Ventriculomegaly, Chorio... OMIM:615219
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Plagiocephaly, Megalocornea, Umbilical hernia, Mandibular prognathia, Corneal dystrophy, High, na... ORPHA:1101
White-Kernohan Syndrome
Retrognathia, Anteriorly placed anus, Short nose, Underdeveloped nasal alae, Midface retrusion, A... OMIM:619426
Moebius Syndrome
High palate, Depressed nasal bridge, Abnormality of the dentition, Bifid uvula, Microphthalmia, R... OMIM:157900
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Hypotelorism OMIM:619091
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Agenesis of permanent teeth, Cleft palate, Narrow mouth, Abnormality of upper lip vermillion, Sho... ORPHA:251028
Lissencephaly 8
Cataract, Occipital encephalocele, Microphthalmia, Ventriculomegaly OMIM:617255
Weaver Syndrome
Retrognathia, Umbilical hernia, Flat occiput, Mandibular prognathia, Lateral ventricle dilatation... OMIM:277590
Microphthalmia, Syndromic 13
Widely-spaced incisors, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea OMIM:300915
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Cleft palate, Microglossia, Short nose, Intrauterine growth retardation, Microphthal... ORPHA:364577
Bohring-Opitz Syndrome
Retrognathia, Cleft lip, Trigonocephaly, Hypertelorism, Intrauterine growth retardation, Microgna... ORPHA:97297
Cockayne Syndrome Type 1
Cataract, Abnormality of the dentition, Widely spaced primary teeth, Anodontia, Deeply set eye, M... ORPHA:90321
Diaphanospondylodysostosis
Cleft palate, Respiratory distress, Myelomeningocele ORPHA:66637
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Degcags Syndrome
Ventriculomegaly, Hypotelorism, Intestinal atresia, Smooth philtrum, Pulmonary arterial hypertens... OMIM:619488
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Plagiocephaly, High palate, Open mouth, Ocular anterior segment dysgenesis, Brachyc... ORPHA:369891
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Microphthalmia, Long philtrum, Thin vermi... ORPHA:1438
Fryns Syndrome
Ventriculomegaly, Cleft palate, Microphthalmia, Non-midline cleft lip, Wide nasal bridge, Anal at... ORPHA:2059
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Respiratory insufficiency due to muscle weakness, Respiratory distress, Micrognath... ORPHA:1143
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Lateral ventricle dilatation, Sclerocornea, Agenesis of corpus callosum, Delayed ... OMIM:300952
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microphthalmia, Shallow orbits, Micrognathia, Frontal bossing, Iris transillumination d... OMIM:617306
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Tachypnea, Restrictive ventilatory defect, Abnormal breath sound, ... ORPHA:2257
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Retrognathia, Brachycephaly, Abnormal lip morphology, Flat occiput, Microdontia, High, n... ORPHA:2707
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bifid uvula, Widely spaced teeth, Hypotelorism, Thin vermilion border, Smooth philtrum, Turriceph... OMIM:612474
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Partial agenesis of the corpus callosum, Dilated fourth ventricle OMIM:615771
Oculodentodigital Dysplasia, Autosomal Recessive
Persistent pupillary membrane, Narrow mouth, Thin vermilion border, Brachycephaly, Microphthalmia... OMIM:257850
Congenital Disorder Of Glycosylation, Type Ie
Flat occiput, High, narrow palate, Telangiectasia, Respiratory distress, Smooth philtrum, Microgn... OMIM:608799
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Low hanging columella OMIM:619318
Osteopetrosis, Autosomal Recessive 7
Death in childhood, Hydrocephalus, Death in infancy, Lateral ventricle dilatation, Recurrent pneu... OMIM:612301
Mmep Syndrome
Median cleft lip, Orofacial cleft, Mandibular prognathia, Microphthalmia ORPHA:3434
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
High palate, Increased circulating prolactin concentration, Hypotelorism, Micrognathia, Abnormali... ORPHA:502423
Pallister-Hall Syndrome
Hypopituitarism, Bifid uvula, Trigonocephaly, Choanal atresia, Cleft palate, Microglossia, Adreno... ORPHA:672
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Widely spaced teeth, Microdontia, Microphthalmia, Anteverted nares, Wide n... OMIM:619694
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Deeply set eye, Severe intrauterine growth retardation, Decreased response to growth... OMIM:241410
Gaucher Disease, Perinatal Lethal
Open mouth, Retrognathia, Short nose, Intrauterine growth retardation, Neonatal death, Ventriculo... OMIM:608013
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Short lingual frenulum, Widely spaced teeth, Small pituitary gland... OMIM:619479
Focal Dermal Hypoplasia
Broad nasal tip, Oligodontia, Cleft palate, Cleft upper lip, Ectopia lentis, Iris coloboma, Hydro... OMIM:305600
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
2Q31.1 Microdeletion Syndrome
Iris coloboma, Trigonocephaly, Deep philtrum, Microphthalmia, Ventriculomegaly, Cleft palate, Eve... ORPHA:251014
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure, Lateral ventricle dilatation OMIM:619847
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Tongue fasciculations, Respiratory distress ORPHA:238329
Apert Syndrome
Cloverleaf skull, Bifid uvula, Brachyturricephaly, Choanal atresia, Ventriculomegaly, Cleft palat... ORPHA:87
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Short nose, Intrauterine growth retardation, Microphthalmia, Depressed nasal ridge... OMIM:300863
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Retrognathia, Cleft lip, Deeply set eye, Deep philtrum, Microphthalmia, Midface retrusion, Cleft ... OMIM:620098
Glutaric Acidemia I
Lateral ventricle dilatation, Hydrocephalus OMIM:231670
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Broad nasal tip, Flat occiput, Deep philtrum, Mandibular prognathia, Astigmatism, Micro... OMIM:152950
Coffin-Siris Syndrome 1
Broad nasal tip, Choanal atresia, Cleft palate, Hypotelorism, Duodenal ulcer, Thick lower lip ver... OMIM:135900
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Cleft upper lip, Brachycephaly, Hydrocephalus, Malar flattening, Wide anterior fonta... OMIM:607872
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Intestinal malrotation, Abnormal nasal morphology, Brachycephaly, Bifid uvula, Deep philtrum, Mic... ORPHA:404440
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Death in adolescence, Intrauterine growth retardation, Neonatal ... OMIM:619751
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Lobulated tongue, Anal atresia, Cleft lip, Respiratory insufficiency, Incomplete c... OMIM:616300
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Intrauterine growth retardation, Microphthalmia, Anenc... OMIM:611134
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Craniosynostosis, Broad nasal tip, High palate, Oligodontia, Brachycephaly, Trigonocephaly, Deepl... OMIM:309590
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Abnormality of the dentition, Microphthalmia OMIM:251700
Warburg Micro Syndrome 3
Cataract, Brachycephaly, Short nose, Microphthalmia, Ventriculomegaly, Shallow anterior chamber, ... OMIM:614222
Heart And Brain Malformation Syndrome
Cleft lip, Wide anterior fontanel, Microphthalmia, Anteverted nares, Prominent occiput, High, nar... OMIM:616920
Joubert Syndrome 21
Encephalocele, Chronic sinusitis, Dyspnea, Occipital encephalocele, Apnea, Respiratory failure, S... OMIM:615636
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Hypotelorism ORPHA:477673
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Recurrent viral upper respi... OMIM:619773
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance OMIM:619466
Odontochondrodysplasia
Retrognathia, Short nose, Death in infancy, Respiratory distress, Delayed eruption of teeth, Fron... ORPHA:166272
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Ventriculomegaly, Lateral ventricle dilatation, Dysplastic corpus callosum ORPHA:488627
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Fraser Syndrome
Bifid tongue, Cleft upper lip, Anal stenosis, Calvarial skull defect, Microphthalmia, Midline nas... ORPHA:2052
Arachnoid Cyst
Encephalocele, Mydriasis, Hydrocephalus, Holoprosencephaly, Abnormal occipital bone morphology, E... ORPHA:2356
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Bruising susceptibility, Hydrocephalus, Microphthalmia, Hypotelorism, Tracheo... OMIM:227646
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Curry-Jones Syndrome
Bicoronal synostosis, Iris coloboma, Microphthalmia, Lipomyelomeningocele, Occipital meningocele,... OMIM:601707
Osteopathia Striata-Cranial Sclerosis Syndrome
Cataract, Retrognathia, Brachycephaly, Bifid uvula, Flat occiput, Facial hyperostosis, Submucous ... ORPHA:2780
Postsynaptic Congenital Myasthenic Syndromes
High palate, Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Cyanosi... ORPHA:98913
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Death in infancy, Microphthalmia, Cleft palate, Macrodontia, Long phi... ORPHA:1106
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Combined Oxidative Phosphorylation Defect Type 39