Gene Summary

Name:
cell adhesion molecule-related/down-regulated by oncogenes
Synonyms:
CAM-related/down-regulated by oncogenes,  CDO

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Cdontm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cdon 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Anteverted nares, ... OMIM:609637
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heteroto... OMIM:604213
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... ORPHA:401942
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615938
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Narrow mouth, Malar flattening, Abnor... ORPHA:2412
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:615937
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Atkin-Flaitz Syndrome
Abnormality of the dentition, Broad nasal tip, Anteverted nares, Everted lower lip vermilion, Thi... ORPHA:1193
Holoprosencephaly 4
Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Median cleft palate, Me... OMIM:142946
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Maxillonasal Dysplasia
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Tooth agenesis, Open bi... ORPHA:1248
Distal Monosomy 7Q36
Bulbous nose, Micrognathia, Holoprosencephaly, Wide mouth, Non-midline cleft of the upper lip, Cl... ORPHA:1636
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Intestinal malrotation, Prominen... OMIM:613684
Filippi Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Serrated incisors, Abnormal dental morphology, Micr... OMIM:272440
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Intellectual Disability, Birk-Barel Type
High, narrow palate, Broad nasal tip, Narrow nasal bridge, Micrognathia, Open mouth, Tented upper... ORPHA:166108
Band Heterotopia
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr... OMIM:600348
Orofaciodigital Syndrome Ii
Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Hypoplasia of the maxilla, Lobulated to... OMIM:252100
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Abnormal mandible mo... ORPHA:83451
Liang-Wang Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618729
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus OMIM:618709
Holoprosencephaly 7
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft... OMIM:610828
Hartsfield Syndrome
Depressed nasal bridge, Non-midline cleft of the upper lip, Encephalocele, Lobar holoprosencephal... ORPHA:2117
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Anteverted nares, P... OMIM:300602
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Solitary Median Maxillary Central Incisor
Anosmia, Choanal atresia, Cleft upper lip, Prominent median palatal raphe, Midnasal stenosis, Sol... OMIM:147250
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Cleft palate, High palate OMIM:246560
Monosomy 18P
Wide nasal bridge, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, H... ORPHA:1598
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Mandibular prognathia, Spinal dysraphism, Micrognathia, Encephalocele, Hydroce... ORPHA:1908
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Micrognathia, Narrow mouth, Mandibular aplasia, Holoprosencephaly, Cleft ... OMIM:202650
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:2182
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Prominent nose, Prominence of the premaxilla, Hydrocephalus, Wide anterior fon... OMIM:614886
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Underdeveloped nasal alae, Cleft mandible, Bulbous nose, Sho... ORPHA:364577
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Maxillozygomatic hypoplasia, Malar flattening, Delayed eruption of teeth ORPHA:2972
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... ORPHA:2791
Pineocytoma
Increased CSF protein concentration, Hydrocephalus ORPHA:251912
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Recon Progeroid Syndrome
Dental crowding, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence ... OMIM:620370
Holoprosencephaly 3
Depressed nasal bridge, Bifid uvula, Cleft lip, Abnormality of the nose, Proboscis, Short columel... OMIM:142945
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... ORPHA:250999
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Bilateral cleft palate, Short hard palate... OMIM:610829
Intellectual Disability And Myopathy Syndrome
Broad nasal tip, Dental malocclusion, Thin upper lip vermilion, Incisor macrodontia, Widely-space... OMIM:619719
Orofacial Cleft 15
Palate fistula, Bulbous nose, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral in... OMIM:616788
Frontonasal Dysplasia 1
Wide nasal bridge, Cranium bifidum occultum, Bifid nasal tip, Broad nasal tip, Hypoplasia of the ... OMIM:136760
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Short philtrum, Premature l... OMIM:156510
Lissencephaly 4
Colpocephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum OMIM:614019
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Broad nasal tip, Cleft upper lip, Widely spaced teeth, Anteverted nares, ... OMIM:612530
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Depressed nasal ridge, Tooth agenesis, Bilateral cleft palate, Meningocele, Absent nasal septal c... ORPHA:2003
Microform Holoprosencephaly
Choanal atresia, Narrow nasal bridge, Anteverted nares, Tented upper lip vermilion, Midnasal sten... ORPHA:280200
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the corpus call... OMIM:619302
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla OMIM:264270
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Lambotte Syndrome
Semilobar holoprosencephaly, Narrow mouth, Retrognathia, Convex nasal ridge OMIM:245552
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Skraban-Deardorff Syndrome
Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio... OMIM:617616
Pontocerebellar Hypoplasia, Type 14
Simplified gyral pattern, Hydrocephalus, Death in infancy, Agenesis of corpus callosum OMIM:619301
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Thin upper lip vermilion, Smooth philtrum, Widely-spaced... OMIM:618737
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Narrow mouth, Absent nares, Mandibular aplas... ORPHA:990
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
W Syndrome
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Submucous cleft hard palate,... ORPHA:2804
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia ORPHA:93950
Congenital Hydrocephalus
Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus, Lissencephaly ORPHA:2185
Edinburgh Malformation Syndrome
Hydrocephalus, Death in infancy OMIM:129850
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Elsahy-Waters Syndrome
High palate, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, Thin upper lip v... OMIM:211380
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Holoprosencephaly 11
Holoprosencephaly, Agenesis of corpus callosum OMIM:614226
49,Xxxxy Syndrome
Depressed nasal bridge, Depressed nasal ridge, Carious teeth, Delayed eruption of teeth, Open bit... ORPHA:96264
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly ORPHA:93274
Lowry-Maclean Syndrome
High, narrow palate, Choanal atresia, Hypoplasia of the maxilla, Pyloric stenosis, Downturned cor... ORPHA:2409
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Taurodontia, Pu... OMIM:166750
Hypomandibular Faciocranial Dysostosis
Aglossia, Hypoplasia of the maxilla, Micrognathia, Malar flattening OMIM:241310
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Split Lower Lip
Narrow maxilla OMIM:183400
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Chromosome 3Q13.31 Deletion Syndrome
Ventriculomegaly, Alobar holoprosencephaly, Agenesis of corpus callosum OMIM:615433
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, High palate, Mandibular prognathia OMIM:300676
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Anteverted nares, Abnormality of p... ORPHA:438216
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Anteverte... OMIM:614701
3Mc Syndrome 2
Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Depressed nasal tip, Prominent n... OMIM:265050
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Masa Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:303350
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia ORPHA:352682
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, Micrognathia, Prenatal death, Neonatal death, High palate OMIM:618393
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar... OMIM:302350
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618067
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of ... OMIM:616367
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Neonatal death OMIM:614870
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Cleft upper lip, Anteverted nares, Wide mouth, Exaggerated cupid's bow, T... ORPHA:261236
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:93945
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard ... OMIM:617412
Microphthalmia, Syndromic 12
Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Neonatal ... OMIM:615524
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Unilateral cleft lip, Bulbous nose, Micrognathia, Malar flattening, Oligodon... ORPHA:1787
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft lip, Holoprosenc... OMIM:601357
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Type II lissencephaly, Death in childhood, Agenesis of corpus ca... OMIM:613153
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... ORPHA:2662
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Lissencephaly, Dilated cardiomyopathy, Polymicrogyria, Type II lissencephaly, Agyria, Encephaloce... OMIM:253800
Holoprosencephaly 2
Bifid uvula, Alobar holoprosencephaly, Semilobar holoprosencephaly, Proboscis, Median cleft palat... OMIM:157170
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Craniotelencephalic Dysplasia
Lissencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Triploidy
Intestinal malrotation, Micrognathia, Narrow mouth, Hydrocephalus, Macroglossia, Meningocele, Hol... ORPHA:3376
Microphthalmia/Coloboma 5
Holoprosencephaly OMIM:611638
Nance-Horan Syndrome
Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Supernumerary tooth, Mandib... ORPHA:627
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth... ORPHA:261295
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Abnormality of canine, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:363417
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Orofaciodigital Syndrome Type 2
Wide nasal bridge, Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral inciso... ORPHA:2751
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Carious teeth, Enamel hypoplasia, Convex nasal ridge OMIM:614564
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone,... ORPHA:556955
Marshall-Smith Syndrome
Irregular dentition, Death in childhood, Prominence of the premaxilla, High palate, Short nose, C... OMIM:602535
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Mandibular prognathia, Amelogenesis imperfecta OMIM:601216
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Microdontia,... ORPHA:782
Intellectual Developmental Disorder, Autosomal Dominant 21
Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate OMIM:615502
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Micrognathia, Malar ... OMIM:620157
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Prominent... ORPHA:776
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Microdontia, Hypodontia, Hydrocephal... OMIM:601499
Endocrine-Cerebroosteodysplasia
Wide nasal bridge, Natal tooth, Thick upper lip vermilion, Depressed nasal tip, Micrognathia, Med... OMIM:612651
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate ORPHA:85279
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Death in infancy OMIM:258320
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate ORPHA:90653
Isolated Exencephaly
Depressed nasal bridge, Hypoplasia of the frontal bone, Holoprosencephaly, Abnormal facial skelet... ORPHA:563612
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matt... OMIM:619895
Trichorhinophalangeal Syndrome, Type Iii
Dental crowding, Long philtrum, Underdeveloped nasal alae, Bulbous nose, Pear-shaped nose, Thin u... OMIM:190351
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of t... ORPHA:915
Alexander Disease
Increased CSF protein concentration, Death in childhood, Death in infancy, Death in adolescence, ... OMIM:203450
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology, Hydroce... ORPHA:93262
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Prominent nose, Microg... OMIM:610706
Trichorhinophalangeal Syndrome Type 2
Wide nasal bridge, Abnormality of the dentition, Long philtrum, Thick nasal alae, Bulbous nose, A... ORPHA:502
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Zimmermann-Laband Syndrome
Bifid uvula, Bulbous nose, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossi... ORPHA:3473
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Prominent nas... ORPHA:50814
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Overhanging nasal tip, Short philtrum, Access... OMIM:619142
Orofaciodigital Syndrome Iii
Bifid uvula, Bulbous nose, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Hartsfield Syndrome
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Cleft uppe... OMIM:615465
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Narrow mouth, Encephalocele, ... ORPHA:2166
Kleeblattschaedel
Hydrocephalus OMIM:148800
Lissencephaly 5
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic... OMIM:615191
Chand Syndrome
Depressed nasal bridge, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton... ORPHA:1401
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Convex nasal ridge, Narrow palate ORPHA:207
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:77298
Hydrolethalus Syndrome 2
Ventriculomegaly, Anencephaly, Hydrocephalus, Agenesis of corpus callosum OMIM:614120
Pfeiffer Syndrome
Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Dental crowding, Choanal sten... OMIM:101600
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:304100
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Bifid uvula, Velopharyngeal ins... OMIM:129400
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Marshall Syndrome
Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi... OMIM:154780
Holoprosencephaly
Encephalocele, Holoprosencephaly, Choanal atresia, Depressed nasal ridge, Aplasia/Hypoplasia invo... ORPHA:2162
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Micrognathia, Hydranencephaly, Holoprosencephaly ORPHA:2570
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Pallister-Hall Syndrome
Depressed nasal bridge, Choanal atresia, Microglossia, Natal tooth, Cleft upper lip, Anteriorly p... OMIM:146510
Uruguay Faciocardiomusculoskeletal Syndrome
Retrognathia, Hyperplasia of the maxilla, Prominent nose, Everted lower lip vermilion, Thick verm... OMIM:300280
Nager Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Abnormal palate morpho... ORPHA:245
Marshall Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... ORPHA:560
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus, Polymicrogyria ORPHA:83473
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Trisomy 18
Choanal atresia, Microretrognathia, Narrow mouth, Cleft palate, Anal atresia, Spina bifida, Esoph... ORPHA:3380
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate OMIM:108721
Cutis Laxa, Autosomal Recessive, Type Ib
Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Death in childhood, Prominence ... OMIM:614437
Holoprosencephaly 13, X-Linked
Alobar holoprosencephaly, Semilobar holoprosencephaly, Micrognathia, Median cleft palate, Submuco... OMIM:301043
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo... ORPHA:228396
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft upper lip, Holoprosencephaly, Cleft palate ORPHA:2165
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Wide anterior fontanel, Delayed eruption of prima... OMIM:620099
2,4-Dienoyl-Coa Reductase Deficiency
Ventriculomegaly, Increased CSF lactate, Death in childhood, Death in infancy, Increased CSF lysi... OMIM:616034
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Convex nasal ridge, Abnormal palate morphology ORPHA:1540
Distal Xq28 Microduplication Syndrome
Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Hypoplasia of the maxil... ORPHA:293939
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Death in childhood, Agenesis of ... OMIM:618651
Ring Chromosome 21 Syndrome
Holoprosencephaly ORPHA:1445
Ring Chromosome 7 Syndrome
Wide nasal bridge, Bifid uvula, Mandibular prognathia, Narrow naris, Prominent crus of helix, Ant... ORPHA:1449
Coffin-Lowry Syndrome
Depressed nasal bridge, Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Dela... ORPHA:192
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micrognathia, Promi... OMIM:309520
Fried Syndrome
Hydrocephalus ORPHA:85335
Cleidocranial Dysplasia
High, narrow palate, Depressed nasal bridge, Abnormality of the dentition, Carious teeth, Delayed... ORPHA:1452
Steinfeld Syndrome
Bifid uvula, Aplasia of the nose, Median cleft palate, Median cleft upper lip, Holoprosencephaly OMIM:184705
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Anteverted nares, Micrognathia, Holopro... OMIM:619879
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Intestinal malrotation, Narrow nose,... OMIM:617602
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Prominent nose, Micrognathia, Hyperplasia of the maxilla, High palate OMIM:620194
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Enterocolitis OMIM:301108
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Prominent nasal bridge, Narrow mouth,... ORPHA:1307
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Semilobar holoprosencephaly, Hypoplasia of the zygomatic bone, Long philt... OMIM:618500
Congenital Syphilis
Hyperplasia of the maxilla, Mulberry molar, Hydrocephalus, High palate, Concave nasal ridge, Notc... ORPHA:499009
Trichorhinophalangeal Syndrome Type 1
Abnormality of the dentition, Long philtrum, Bulbous nose, Micrognathia, Long upper lip, High pal... ORPHA:77258
Distal Deletion 13Q
Holoprosencephaly, Anencephaly, Encephalocele ORPHA:1590
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Exaggerated median tongue furrow, Hyperplasia of the maxilla ORPHA:313892
Acrootoocular Syndrome
Wide nasal base, High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathi... ORPHA:2980
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Abnormality of the dentition... ORPHA:178303
Pseudotrisomy 13 Syndrome
Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Hydrocephalus, Holoprosencephaly OMIM:264480
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ... OMIM:207950
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus, Death in childhood OMIM:610333
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Short nose, Cleft palate, Accessory or... ORPHA:79113
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morpholo... ORPHA:439822
Aicardi Syndrome
Cleft upper lip, Anteverted nares, Prominence of the premaxilla, Hiatus hernia, Spina bifida, Cle... OMIM:304050
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Protein-losing enteropathy, Delayed eruption of teeth,... OMIM:235510
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Long philtrum, C... ORPHA:1106
Melanosis, Neurocutaneous
Death in infancy, Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palate, Neonatal death, Me... OMIM:269860
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Wide nasal bridge, Depressed nasal bridge, Triangular nasal tip, Thick lower lip vermilion, Antev... OMIM:309580
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, High palate, Hypoplasia of the maxilla, Short nose OMIM:218000
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Bulbous nose, Persistence of primary teeth, Micrognat... OMIM:170390
Chromosome 13Q14 Deletion Syndrome
Bulbous nose, Micrognathia, Thin upper lip vermilion, Deep philtrum, Everted lower lip vermilion,... OMIM:613884
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Crouzon Syndrome
Hypoplasia of the maxilla, Dental crowding, Deviated nasal septum, Hydrocephalus, High palate, Ma... OMIM:123500
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Congestive heart failure OMIM:300886
Van Maldergem Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, A... OMIM:601390
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte... ORPHA:300573
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Prominent... OMIM:268305
Isolated Arrhinia
Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy... ORPHA:1134
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:618577
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hydrocephalus, Holoprosencephaly, U-Shape... OMIM:147791
Coach Syndrome 2
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Orofaciodigital Syndrome I
Wide nasal bridge, Carious teeth, Microretrognathia, Underdeveloped nasal alae, Cleft upper lip, ... OMIM:311200
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Ventriculomegaly, Dilated cardiomyopathy, Hydrocephalus ORPHA:272
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Lissencephaly, Subcortical heterotopia, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, ... OMIM:614643
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pachygyria, Hydrocephalus OMIM:618174
Arthrogryposis, Distal, Type 12
High palate, Dental crowding, Agenesis of maxillary incisor OMIM:620545
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Pycnodysostosis
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Prom... ORPHA:763
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Depressed nasal bridge, Anteverted nares, Malar flattening, Thick vermilion border, Thin vermilio... ORPHA:86818
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matter heterotop... OMIM:615219
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla OMIM:167730
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Microdontia, Deep philtrum, Talon cusp, Cleft palate OMIM:605282
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Iniencephaly
Lissencephaly, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, H... ORPHA:63259
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation, Death in infancy OMIM:618266
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Supernumerary tooth, Persistence of primary teeth, ... OMIM:619752
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Choanal atresia, Hypoplasia of the maxilla, Semilobar holoprosencephaly, Broad nasal tip, Carious... OMIM:129900
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Wide nasal bridge, Conical tooth, Underdeveloped nasal alae, Widely spaced teeth, Prominent nose,... ORPHA:90024
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Apert Syndrome
Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Bifid uvula, Delayed eruption... ORPHA:87
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Hydrocephalus, Polymicrogyria OMIM:602501
Proboscis Lateralis
Choanal atresia, Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Probosc... ORPHA:141099
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydranencephaly, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Da... OMIM:225790
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Natal tooth, Dental malocclusion, Underdeveloped nasal alae, ... OMIM:234100
Papillary Tumor Of The Pineal Region
Increased CSF protein concentration, Hydrocephalus ORPHA:251915
Aicardi Syndrome
Hiatus hernia, Intestinal polyposis, Cleft palate, Prominence of the premaxilla ORPHA:50
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Depressed nasal bridge, Broad nasal tip, Mandibular prognathia, Widely spaced teeth, A... OMIM:619841
Andersen-Tawil Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Bulb... ORPHA:37553
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Choanal atresia, Microglossia, Long philtrum, Tooth agenesis, Abnormal dental ... ORPHA:818
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Diastema, Furrowed tongu... OMIM:300534
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, High palate, Rectovaginal fistula, Choanal ... ORPHA:861
Congenital Muscular Dystrophy With Cerebellar Involvement
Ventriculomegaly, Occipital encephalocele, Cardiomyopathy, Polymicrogyria, Type II lissencephaly,... ORPHA:370959
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Choanal atresia, Semilobar holoprosencephaly, Dental crowding, Downturned corners of mouth, Retro... OMIM:301044
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Long philtrum, Bulbous nose, Anteverted nares, Smooth philtrum, Thin v... ORPHA:481152
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Cleft palate, Short nose, Wide nose OMIM:614261
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Death in infancy, Simplified gyral pattern OMIM:617668
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Van Maldergem Syndrome 2
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dental malocclusion, Downtu... OMIM:615546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Hydrocephalus, Cardiomyopathy OMIM:613155
Mosaic Variegated Aneuploidy Syndrome
Depressed nasal ridge, Colon cancer, Micrognathia, Stomach cancer, Intestinal polyposis, Holopros... ORPHA:1052
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Anteverted nares, Hypodontia, Clef... OMIM:305400
Barber-Say Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... OMIM:209885
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Arachnoid Cyst
Enlarged fossa interpeduncularis, Encephalocele, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Infantile Sialic Acid Storage Disease
Hydrocephalus, Death in childhood, Congestive heart failure OMIM:269920
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dela... ORPHA:950
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... ORPHA:238468
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Encephalocele, Basal encephalocele, Bifid to... ORPHA:391474
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation, Decreased CSF asialotransferrin to transfe... OMIM:620315
Acitretin/Etretinate Embryopathy
Hypoplastic nasal septum, Anteverted nares, Micrognathia, Median cleft palate, Aplasia/Hypoplasia... ORPHA:40366
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus OMIM:620156
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Nablus Mask-Like Facial Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the dentitio... OMIM:608156
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Hydrocephalus, Polymicrogyria OMIM:615181
Neurofaciodigitorenal Syndrome
Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Prominent nasal bridge, Abnormalit... ORPHA:2673
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy OMIM:600559
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Lateral ventricle dilatation OMIM:602200
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia ORPHA:1264
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Umbilical hernia ORPHA:1516
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Cowden Syndrome 5
Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, High palate, Hamar... OMIM:615108
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Hyperglycorrhachia, Congestive heart failure, Increased CSF lactate, Ischemic stroke, ... ORPHA:90065
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border OMIM:620114
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose ORPHA:3044
Adams-Oliver Syndrome 2
Lateral ventricle dilatation, Hydrocephalus, Polymicrogyria OMIM:614219
Monosomy 13Q14
Wide nasal bridge, Holoprosencephaly, Micrognathia, Prominent nasal bridge ORPHA:1587
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus, Umbilical hernia ORPHA:2181
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Wide nasal bridge, Hypoplasia of the maxilla, Cleft lip, Conical tooth, Bilateral choanal atresia... OMIM:106260
Congenital Toxoplasmosis
Ventriculomegaly, Hydrocephalus ORPHA:858
Autosomal Recessive Robinow Syndrome
Open bite, Ankyloglossia, Micrognathia, Short nose, Downturned corners of mouth, Hypodontia, Orof... ORPHA:1507
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Hydrocephalus OMIM:248000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Bloom Syndrome
Recurrent upper respiratory tract infections, Agenesis of maxillary lateral incisor, Malar flatte... OMIM:210900
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Agenesis of corpus callosum, Hydrocephalus, Agyria, Lissencephaly OMIM:615249
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte... OMIM:618820
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long ... ORPHA:444072
Cowden Syndrome 6
Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, High palate, Hamar... OMIM:615109
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Microtia-Anotia
Holoprosencephaly OMIM:600674
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia, Diastema, Agenesis of molar, Microdontia, Supernumerary tooth OMIM:619718
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Depressed nasal bridge, Hypoplasia of the maxilla, Conical tooth... OMIM:305100
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Occipital encephalocele, Microretrognathia, Anteriorly placed anus, Hamar... OMIM:615948
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Cleidocranial Dysplasia 1
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Narrow palate, Absent paranasal s... OMIM:119600
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Volvulus, Intestinal malrotation, Bulbous nose, Hiatus hernia, Hypoplastic philtrum OMIM:616682
Holoprosencephaly 1
Alobar holoprosencephaly, Proboscis, Median cleft palate, Median cleft upper lip, Ethmocephaly, A... OMIM:236100
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,... OMIM:608149
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventriculomegaly, Polymicrogyria, Mitral regurgitation, Hydrocephalus, Pachygyria OMIM:603387
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Extra-axial cerebrospinal fluid accumulation, Ventriculomegaly, Lateral ventricle dilatation, Sub... OMIM:618291
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Median cleft upper lip, Orofacial cleft, Holoprosencephaly, Aplasia of the nose ORPHA:3186
Goldberg-Shprintzen Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge, Oligodontia, ... OMIM:609460
Rubinstein-Taybi Syndrome 1
Micrognathia, Narrow mouth, High palate, High, narrow palate, Hypoplasia of the maxilla, Thin upp... OMIM:180849
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly ORPHA:2163
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z... ORPHA:193
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H... OMIM:613154
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Cerebral ischemia, Arrhythmia, Telangiectasia of the skin, Hydr... ORPHA:60040
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Notched primary central incisor, Depressed nasal bridge, Cleft lip OMIM:620519
Smith-Lemli-Opitz Syndrome
Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Microretrognathia, Dental crowding, Micro... OMIM:270400
Acrodysostosis 1 With Or Without Hormone Resistance
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ... OMIM:101800
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nasal tip, Abn... ORPHA:2399
Angelman Syndrome
Macroglossia, Hypoplasia of the maxilla, Mandibular prognathia, Protruding tongue OMIM:105830
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, Hypoplasia of the maxilla, Dental malocclusion, Anteverted nares, Micrognathia, Hy... OMIM:182212
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Narrow nose, Prominent nasal ... OMIM:601812
Houge-Janssens Syndrome 2
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum OMIM:616362
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachy... ORPHA:468631
Hallermann-Streiff Syndrome
High, narrow palate, Choanal atresia, Abnormality of the dentition, Natal tooth, Underdeveloped n... ORPHA:2108
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the ma... ORPHA:306542
Carpenter Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Agenesis of permanent teeth, Persistence of pr... OMIM:201000
Branchioskeletogenital Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Broad nasal tip, Downturned cor... ORPHA:1299
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:618736
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria OMIM:618731
Van Den Ende-Gupta Syndrome
High, narrow palate, Depressed nasal bridge, Hypoplasia of the maxilla, Dental crowding, Underdev... OMIM:600920
Glutamine Deficiency, Congenital
Lateral ventricle dilatation, Neonatal death, Bradycardia, Decreased CSF glutamine concentration,... OMIM:610015
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Charge Syndrome
Anosmia, Choanal atresia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Cleft upper l... ORPHA:138
Rothmund-Thomson Syndrome, Type 2
Depressed nasal bridge, Mandibular prognathia, Delayed eruption of teeth, Anteriorly placed anus,... OMIM:268400
Nasu-Hakola Disease
Ventriculomegaly, Hydrocephalus ORPHA:2770
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Raine Syndrome
Depressed nasal bridge, Choanal atresia, Mandibular prognathia, Natal tooth, Micrognathia, Narrow... OMIM:259775
Microtia
Holoprosencephaly ORPHA:83463
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Ol... ORPHA:2095
Hb Bart'S Hydrops Fetalis
Hydrocephalus, Pericarditis, Congestive heart failure ORPHA:163596
Meckel Syndrome
Depressed nasal ridge, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Micrognathia, Encephalo... ORPHA:564
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum OMIM:175700
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia OMIM:613804
Martsolf Syndrome 1
Depressed nasal bridge, Tooth malposition, Broad nasal tip, Hypoplasia of the maxilla, Long philt... OMIM:212720
Walker-Warburg Syndrome
Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus c... ORPHA:899
Tooth Agenesis, Selective, 3
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia OMIM:604625
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Death in infancy OMIM:241800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia, Submucous cleft hard palate OMIM:613805
Saethre-Chotzen Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Prominent crus of helix, Open bite, Prominent ... ORPHA:794
Autosomal Dominant Robinow Syndrome
Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Downturned corners of mouth, Long... ORPHA:3107
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Umbilical hernia, Hypertrophic cardiomyopathy, Death in childhood, Hydrocephalus, ... OMIM:612938
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Wide nasal bridge, Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermil... ORPHA:73223
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal mandible condylar process morphology, Prominent nose, Abnormal ethmoid bone morphology, ... ORPHA:2976
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in childhood OMIM:619517
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Colpocephaly, Periventricular heterotopia, Hydrocephalus OMIM:619833
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation OMIM:613443
Isolated Cleft Lip
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... ORPHA:199302
Thanatophoric Dysplasia
Gray matter heterotopia, Ventriculomegaly, Hydrocephalus ORPHA:2655
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Ehlers-Danlos Syndrome, Classic Type, 1
Irregularly spaced teeth, Bowel diverticulosis, Narrow maxilla, Recurrent sinusitis OMIM:130000
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Abnormal de... ORPHA:69087
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation ORPHA:163961
Doors Syndrome
Wide nasal base, Short lingual frenulum, Open mouth, High palate, Broad nasal tip, Downturned cor... ORPHA:79500
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Prominent nose, Wide nasal ridge, Wide mouth ORPHA:251061
Cerebrofacioarticular Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Anal stenosis, Anteriorly placed anus, Bilateral ch... ORPHA:314679
Chime Syndrome
Depressed nasal ridge, Abnormality of the dentition, Abnormal dental morphology, Microdontia, Hyp... ORPHA:3474
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death in infancy, ... ORPHA:1790
Faciocardiomelic Syndrome
Depressed nasal bridge, Dental malocclusion, Hyperplasia of the maxilla, Long philtrum, Anteverte... OMIM:612731
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Increased CSF lactate, Abnormal C... ORPHA:79243
Distal Deletion 12Q
High, narrow palate, Microglossia, Long philtrum, Bulbous nose, Anteverted nares, Micrognathia, M... ORPHA:96149
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Broad nasal tip... ORPHA:363611
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Type II lissencephaly, Encephalocele, Death in infancy, Agenesis of corpus call... OMIM:613150
Cowden Syndrome 1
Hypoplasia of the maxilla, Colonic diverticula, Furrowed tongue, Micrognathia, High palate, Hamar... OMIM:158350
Distal Deletion 19P
Hypoplasia of the maxilla, Cleft palate ORPHA:96129
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Hennekam Syndrome
Wide nasal bridge, Depressed nasal bridge, Abnormal oral mucosa morphology, Delayed eruption of t... ORPHA:2136
Craniosynostosis 6
Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus... OMIM:616602
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Nasal congestion, Thick nasal ... ORPHA:79345
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Osteoglophonic Dysplasia
Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Eruption failure, Delayed eru... OMIM:166250
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Lateral ventricle dilatation, Cardiomyopathy, Subependymal cysts, Elevated ... OMIM:600721
Boomerang Dysplasia
Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Neonatal death OMIM:112310
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Pseudo-Torch Syndrome 2
Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Bradycardia, Cerebral hemorrhage,... OMIM:617397
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mouth, Mesiodens... ORPHA:314647
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Periventricular Nodular Heterotopia 9
High palate, Gingival overgrowth, Hypoplastic philtrum, Everted upper lip vermilion OMIM:618918
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus OMIM:601794
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern ORPHA:284417
Krabbe Disease
Increased CSF protein concentration, Hydrocephalus OMIM:245200
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Anteverted nares, Micrognathia, Gi... OMIM:213980
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Peters-Plus Syndrome
Hypoplasia of the maxilla, Cleft upper lip, Widely spaced teeth, Long philtrum, Anteriorly placed... OMIM:261540
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, A... ORPHA:157
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Tooth malposition, Abnormal dental morphology,... OMIM:277600
Temple Syndrome
Hydrocephalus ORPHA:254516
Craniosynostosis And Dental Anomalies
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, Dental malocclusion, Delayed er... OMIM:614188
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Ventriculomegaly, Hydrocephalus OMIM:219730
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Bresek Syndrome
Hydrocephalus, Neonatal death ORPHA:85284
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Umbilical hernia ORPHA:171839
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Ventriculomegaly, Cardiomyopathy, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neu... ORPHA:228308
Stickler Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Bifid uvula, Microretro... ORPHA:828
Hemangioblastoma
Hydrocephalus ORPHA:252054
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Periventricular heterotopia, Agenesis of corpus callosum, Hydrocephalus, Dandy-... OMIM:618476
Houge-Janssens Syndrome 1
Ventriculomegaly, Hydrocephalus OMIM:616355
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Joubert Syndrome With Renal Defect
Polymicrogyria, Hydrocephalus, Encephalocele, Agenesis of corpus callosum ORPHA:220497
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Dental malocclusion, Pursed lips, Long philtrum, Micrognathia, Prominent na... ORPHA:800
1Q44 Microdeletion Syndrome
Ventriculomegaly, Hydrocephalus, Agenesis of corpus callosum ORPHA:238769
Williams-Beuren Region Duplication Syndrome