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Gene: Cdon MGI:1926387

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

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
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Deep philtru... OMIM:609637
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... OMIM:604213
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615938
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration ORPHA:945
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Narrow ... ORPHA:2412
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:615937
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Thick vermilion border, Everted ... ORPHA:1193
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Distal Monosomy 7Q36
Micrognathia, Bulbous nose, Non-midline cleft lip, Cleft palate, Wide mouth, Holoprosencephaly ORPHA:1636
Rubinstein-Taybi Syndrome 2
Intestinal malrotation, Micrognathia, Carious teeth, Prominent nose, Talon cusp, Dental malocclus... OMIM:613684
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Broad nasal tip, High, narrow pala... ORPHA:166108
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Holoprosencephaly 4
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Sem... OMIM:142946
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Open bite, Depressed na... ORPHA:1248
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... OMIM:600348
Filippi Syndrome
Underdeveloped nasal alae, Low hanging columella, Wide nasal bridge, Thin vermilion border, Short... OMIM:272440
Mohr Syndrome
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th... OMIM:252100
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Wide nasal bridge, Downturned corners of... OMIM:618729
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly OMIM:618709
Holoprosencephaly 7
Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Hypop... OMIM:610828
Hartsfield Syndrome
Encephalocele, Depressed nasal bridge, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly ORPHA:2117
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower lip vermilion, P... OMIM:300602
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Cleft upper lip, Anosmia, Pr... OMIM:147250
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, High palate, Cleft palate OMIM:246560
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Bulbous nose, Palate fi... OMIM:616788
Monosomy 18P
Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Short ... ORPHA:1598
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Encephalocele, Micrognathia, Non-midline cleft lip, Hydrocephalus, Meningo... ORPHA:1908
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Agenesis of premo... ORPHA:2791
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia ORPHA:2972
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin... ORPHA:364577
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Prominent nose, Wide anterior fontanel, Hydrocephalus, Wide nasal b... OMIM:614886
Agnathia-Otocephaly Complex
Wide nose, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Narrow mouth, Mandibular apla... OMIM:202650
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Anteverted nares, Narrow nasal ridge, Prominent na... OMIM:620370
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 3
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... OMIM:142945
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Broad nasal tip, Dental malocclusion, Widely-spaced maxillary central i... OMIM:619719
Frontonasal Dysplasia 1
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic fronta... OMIM:136760
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly, Lissencephaly, Simplified gyral pattern OMIM:614019
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... OMIM:619302
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Short philtrum, Premature loss of teeth, Convex... OMIM:156510
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, C... OMIM:612530
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla ORPHA:2776
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... ORPHA:280200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Skraban-Deardorff Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's bow, Cleft palate, Widely ... OMIM:617616
Lambotte Syndrome
Semilobar holoprosencephaly, Retrognathia, Convex nasal ridge, Narrow mouth OMIM:245552
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater... ORPHA:2003
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Absent nares, Holoprosencephaly, Narrow mouth, Mandibular ... ORPHA:990
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Microhydranencephaly, X-Linked
Holoprosencephaly OMIM:306990
W Syndrome
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... ORPHA:2804
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia ORPHA:93950
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly ORPHA:2185
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau... ORPHA:3352
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Smooth philtrum, Widely-spaced... OMIM:618737
Holoprosencephaly 11
Agenesis of corpus callosum, Holoprosencephaly OMIM:614226
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge OMIM:618302
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Malar flattening, Aglossia, Micrognathia OMIM:241310
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly ORPHA:93274
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Abnormal den... ORPHA:96264
Lowry-Maclean Syndrome
Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... ORPHA:2409
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... ORPHA:1529
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Tooth ankylosis, Pulp calcific... OMIM:166750
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... OMIM:211380
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Split Lower Lip
Narrow maxilla OMIM:183400
3Mc Syndrome 2
Prominence of the premaxilla, Prominent nasal bridge, Cleft upper lip, Wide nasal bridge, Cleft p... OMIM:265050
Chromosome 3Q13.31 Deletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Alobar holoprosencephaly OMIM:615433
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly ORPHA:352682
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Broad nasal tip, Underdev... ORPHA:438216
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Supernumerary maxillary incisor... OMIM:302350
Fetal Akinesia Deformation Sequence 4
Micrognathia, Wide nasal bridge, High palate, Prenatal death, Neonatal death, Retrognathia OMIM:618393
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Type II lissencephaly, Ventriculomegaly OMIM:614830
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Pachygyria OMIM:614870
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low... OMIM:618067
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Clef... ORPHA:261236
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly OMIM:300706
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:93945
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... OMIM:617412
Microphthalmia, Syndromic 12
Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft palate, Neonatal ... OMIM:615524
Vissers-Bodmer Syndrome
Holoprosencephaly OMIM:619033
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Holoprosenc... OMIM:601357
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, Lissencephaly, Death ... OMIM:613153
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, U... OMIM:257850
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Keipert Syndrome
Tented upper lip vermilion, Depressed nasal bridge, Exaggerated cupid's bow, Prominent nasal brid... ORPHA:2662
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Hydrocephalus, Frontal encephalocele, Lissencephaly ORPHA:1528
Triploidy
Intestinal malrotation, Micrognathia, Non-midline cleft lip, Hydrocephalus, Meningocele, Cleft pa... ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hydrocephalus, Dilated cardiomyopathy, Lissencephaly, Holoprosencephaly, P... OMIM:253800
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Acrofacial Dysostosis, Palagonia Type
Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, Oligodontia, Unilateral cle... ORPHA:1787
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Nance-Horan Syndrome
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Abnormality of the dentition, Supe... ORPHA:627
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Narrow mouth, Malar flatten... ORPHA:261295
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge OMIM:614564
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta OMIM:601216
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal external nose morphology, Hypoplasia of the zygomatic bone, High palate, Holoprosencepha... ORPHA:556955
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia OMIM:615502
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Hydrocephalus, W... OMIM:620157
Marshall-Smith Syndrome
Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Choanal s... OMIM:602535
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate ORPHA:90653
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate ORPHA:85279
Lujan-Fryns Syndrome
Dental crowding, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of ... ORPHA:776
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Submuc... OMIM:157170
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge... OMIM:601499
Cohen Syndrome
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philt... OMIM:216550
Trichorhinophalangeal Syndrome, Type Iii
Thin upper lip vermilion, Dental crowding, Underdeveloped nasal alae, Supernumerary tooth, Pear-s... OMIM:190351
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus OMIM:258320
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Periventricular heterotopia, Hyd... OMIM:619895
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Hydrocephalus, Wide nasal bridg... OMIM:612651
Isolated Exencephaly
Holoprosencephaly, Depressed nasal bridge, Abnormal facial skeleton morphology, Hypoplasia of the... ORPHA:563612
Aarskog-Scott Syndrome
Delayed eruption of teeth, Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Abnormal... ORPHA:915
Alexander Disease
Death in infancy, Hydrocephalus, Death in adolescence, Death in childhood, Increased CSF protein ... OMIM:203450
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Ventriculomegaly ORPHA:324416
Axenfeld-Rieger Syndrome
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe... ORPHA:782
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Malar flattening, Convex nasal ridge, ... ORPHA:93262
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Simplified gyral pattern OMIM:619470
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:397973
Trichorhinophalangeal Syndrome Type 2
Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, Deep philtrum, Bulbo... ORPHA:502
Zimmermann-Laband Syndrome
Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis, Cleft palate, ... ORPHA:3473
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... ORPHA:50814
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Hartsfield Syndrome
Wide nose, Median cleft lip, Cleft upper lip, Alobar holoprosencephaly, Cleft palate, Lobar holop... OMIM:615465
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bulbous nose, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Kleeblattschaedel
Hydrocephalus OMIM:148800
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Intestinal malrotation, Micrognathia, Hydrocephalus,... ORPHA:2166
Pallister-Hall Syndrome
Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Short no... OMIM:146510
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty... OMIM:615191
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Over... OMIM:619142
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Pfeiffer Syndrome
Mandibular prognathia, Dental crowding, Depressed nasal bridge, Choanal atresia, Hypoplasia of th... OMIM:101600
Chand Syndrome
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... ORPHA:1401
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:77298
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal... OMIM:129400
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Convex nasal ridge ORPHA:207
Holoprosencephaly
Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosencephaly, Encephalocele, Aplasia/Hyp... ORPHA:2162
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Malar flattening, Micrognathia, Absent frontal sinuses,... OMIM:154780
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Hydranencephaly, Holoprosencephaly, Micrognathia ORPHA:2570
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Nager Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morphology, Non-midline cleft lip, Cleft ... ORPHA:245
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of... ORPHA:560
Uruguay Faciocardiomusculoskeletal Syndrome
Wide nose, Prominent nose, Thick vermilion border, Everted lower lip vermilion, Retrognathia, Hyp... OMIM:300280
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Polymicrogyria, Mitral regurgitation ORPHA:83473
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concen... OMIM:616034
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Trisomy 18
Microretrognathia, Choanal atresia, Spina bifida, Esophageal atresia, Non-midline cleft lip, Anen... ORPHA:3380
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Wide anterior fontanel, Supernumerary tooth, Delayed eruption of prima... OMIM:620099
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Holoprosencephaly-Caudal Dysgenesis Syndrome
Median cleft lip, Holoprosencephaly, Cleft palate ORPHA:2165
Ring Chromosome 21 Syndrome
Holoprosencephaly ORPHA:1445
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft pala... OMIM:301043
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Anteverted nares, Hypoplasia of the maxilla, Thick vermilion border, Long phil... ORPHA:228396
Ring Chromosome 7 Syndrome
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Wide na... ORPHA:1449
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia OMIM:108721
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Death in early adulthood, Abnorm... ORPHA:192
Halperin-Birk Syndrome
Colpocephaly, Death in childhood, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly... OMIM:618651
Fried Syndrome
Hydrocephalus ORPHA:85335
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat... OMIM:309520
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Dysostosis, Stanescu Type
Narrow nasal bridge, Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia ... ORPHA:1798
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, T... ORPHA:293939
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft palate, High palate, ... ORPHA:1307
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation, Polymicrogyria OMIM:300982
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Depressed nasal bridge, Abnormal den... ORPHA:1452
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Intestinal malrotation, Narrow nose, Carious teeth, Long nose, Downturned corner... OMIM:617602
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology ORPHA:1540
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Holoprosencephaly, Re... OMIM:619879
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:264480
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Lobar holoprosencephaly, Hypoplasia of the zygomatic bone, High palate, L... OMIM:618500
Melanosis, Neurocutaneous
Choroid plexus papilloma, Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Distal Deletion 13Q
Encephalocele, Anencephaly, Holoprosencephaly ORPHA:1590
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Depressed n... ORPHA:178303
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Narrow palate, Hyperplasia of the maxilla ORPHA:313892
Acrootoocular Syndrome
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... ORPHA:2980
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hyperplasia of the maxilla, High palate, Prominent nose, Micrognathia OMIM:620194
Trichorhinophalangeal Syndrome Type 1
Abnormality of the dentition, Micrognathia, Supernumerary tooth, Bulbous nose, High palate, Long ... ORPHA:77258
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Wide nasal b... OMIM:106260
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Agen... OMIM:207950
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Hypop... ORPHA:950
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly, Death in childhood OMIM:610333
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening,... ORPHA:79113
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal tip, Depressed nasal bridge, Abn... ORPHA:439822
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Spina bifida, Hiatus hernia, Cleft upper lip, Cle... OMIM:304050
Microphthalmia With Limb Anomalies
Death in infancy, Macrodontia, Hypoplasia of the premaxilla, Depressed nasal bridge, Cleft upper ... ORPHA:1106
Steinfeld Syndrome
Holoprosencephaly, Bifid uvula, Aplasia of the nose, Median cleft lip and palate OMIM:184705
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Depressed nasal bridge, Rectal prolapse, Spina bifida occulta, Gingiva... OMIM:235510
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydrocephalus, Anence... OMIM:269860
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla OMIM:608154
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Micrognathia, Bulbous nose, High palate, Co... OMIM:614437
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, H... OMIM:309580
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... OMIM:170390
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Pachygyria OMIM:618174
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus OMIM:300886
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Micrognathia, Deep philtrum, Bulbous nose, Everted lower lip vermilion,... OMIM:613884
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Short nose, High palate, Wide nasal bridge OMIM:218000
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... ORPHA:300573
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... ORPHA:364028
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Type II lissencephaly, Ventriculomegaly ORPHA:272
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Coach Syndrome 2
Hypertension, Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Wide an... OMIM:601390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Death in infancy, Subcortical heterotopia, Agyria, Type II lissencephaly, Pachygyr... OMIM:614643
Jacobsen Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Hydrocephalus, Holopros... OMIM:147791
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Prominent nose, Pierre-R... OMIM:268305
Temtamy Preaxial Brachydactyly Syndrome
Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia OMIM:605282
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, High palate, De... OMIM:123500
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Anteverted nares, Depressed nasal bridge, Supernumerary tooth, Thin vermilion border, Thick vermi... ORPHA:86818
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Malabsorption, Hiatus hernia, Cleft palate ORPHA:50
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Lis... ORPHA:63259
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Lateral ventricle dilatation OMIM:618266
Pycnodysostosis
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... ORPHA:763
Orofaciodigital Syndrome I
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Underde... OMIM:311200
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly OMIM:602501
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge OMIM:167730
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Abnormal paranasal sinus morpholog... ORPHA:141099
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Co... OMIM:615219
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Micrognathia, Prominent nose, Supernumerary tooth, Underdeveloped nasal alae, Wide... ORPHA:90024
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Thin upper lip vermilion, Communicating hydrocephalus, Anteverted nares, P... OMIM:619841
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Dandy-Walker malformation, Hydrocephalus, Hydranencephaly, Polymicrogyria, Agenesis of corpus cal... OMIM:225790
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex... ORPHA:87
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Lateral ventricle dilatation, Simplified gyral pattern OMIM:617668
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, Recurrent upper respiratory tract infections, High palate, Persistence of pr... OMIM:619752
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Choanal atres... OMIM:129900
Hallermann-Streiff Syndrome
Natal tooth, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Underdeveloped nasal... OMIM:234100
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray mat... ORPHA:370959
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephalocele, Abnormal denta... ORPHA:861
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Smith-Lemli-Opitz Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Aganglionic megacolon, Micrognathi... ORPHA:818
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Wide nose, Short nose, Cleft palate OMIM:614261
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Aortic valve stenosis OMIM:615599
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Thin upper lip vermilion, Dental crowding, Anteverted nares, Choanal atresia, Narrow nose, Cleft ... OMIM:301044
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Thin vermilion border, High palate, Lo... ORPHA:481152
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Hypoplasia... OMIM:300534
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... OMIM:209885
Aarskog-Scott Syndrome
Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Cu... OMIM:305400
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Hypoplasia... OMIM:615546
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Wide nose, Micrognathia, Depressed nasal ridge, Cleft palate, Colon cancer,... ORPHA:1052
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus OMIM:613155
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening OMIM:109120
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrocephalus, Death in childhood OMIM:269920
Frontorhiny
Encephalocele, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Midline nasa... ORPHA:391474
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch OMIM:616462
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Hypoplastic nasal septum, High... ORPHA:40366
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... ORPHA:238468
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition,... OMIM:608156
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation OMIM:220220
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor OMIM:620062
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... ORPHA:2673
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Death in infancy OMIM:600559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly OMIM:615181
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Umbilical hernia, Hydrocephalus ORPHA:1516
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Supernumerary tooth, Abnormality of the dentition ORPHA:1264
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly OMIM:601370
Adams-Oliver Syndrome 2
Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation OMIM:614219
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
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla ORPHA:3044
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Monosomy 13Q14
Holoprosencephaly, Prominent nasal bridge, Wide nasal bridge, Micrognathia ORPHA:1587
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Umbilical hernia, Hydrocephalus ORPHA:2181
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Lissencephaly, Agenesis of corpus callosum, Agyria, Type II lissencephaly OMIM:615249
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Supernumerary tooth, Anosmia, Microdontia OMIM:619718
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Holoprosencephaly, Polymicrogy... OMIM:618820
Bloom Syndrome
Malar flattening, Recurrent upper respiratory tract infections, Agenesis of maxillary lateral inc... OMIM:210900
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Microtia-Anotia
Holoprosencephaly OMIM:600674
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Conical too... OMIM:305100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Di... OMIM:613154
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Mitral regurgitation, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:603387
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Hamartoma of tongue, Micrognathia, Cleft... OMIM:615948
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Wide nasal bridge... ORPHA:444072
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Kagami-Ogata Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long philtrum,... OMIM:608149
Cleidocranial Dysplasia 1
Depressed nasal bridge, Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, ... OMIM:119600
Holoprosencephaly-Craniosynostosis Syndrome
Holoprosencephaly ORPHA:2163
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Hypoplastic philtrum, Bulbous nose, Volvulus OMIM:616682
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arrhythmia, Polymicrogyria, Ventric... ORPHA:60040
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Median cleft lip, Aplasia of the nose, Orofacial cleft ORPHA:3186
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Hi... OMIM:180849
Charge Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Abnormal sof... ORPHA:138
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r... ORPHA:2399
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia, Hypoplasia o... ORPHA:193
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebr... OMIM:618291
Smith-Lemli-Opitz Syndrome
Microretrognathia, Death in infancy, Dental crowding, Aganglionic megacolon, Intestinal malrotati... OMIM:270400
Angelman Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Macroglossia, Protruding tongue OMIM:105830
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasa... OMIM:609460
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Walker-Warburg Syndrome
Dandy-Walker malformation, Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal mig... ORPHA:899
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad... OMIM:101800
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Microtia
Holoprosencephaly ORPHA:83463
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Aplasia/Hy... ORPHA:306542
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Micrognathia, Abnormality of the dentition, High, narrow palate, Su... ORPHA:2108
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Periventricular heterotopia, Simplified gyral pattern, Lobar holoprosencephaly, Lissencephaly, Pa... ORPHA:468631
Branchioskeletogenital Syndrome
Mandibular prognathia, Depressed nasal bridge, Unilateral cleft palate, Abnormality of the dentit... ORPHA:1299
Shprintzen-Goldberg Craniosynostosis Syndrome
Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Wide anterior fontanel, Hydrocephalus,... OMIM:182212
Glutamine Deficiency, Congenital
Decreased CSF glutamine concentration, Subependymal cysts, Lateral ventricle dilatation, Bradycar... OMIM:610015
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop... OMIM:601812
Carpenter Syndrome 1
Depressed nasal bridge, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Ag... OMIM:201000
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly, Polymicrogyria OMIM:618731
Van Den Ende-Gupta Syndrome
Dental crowding, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... OMIM:600920
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrocephalus, Pericarditis ORPHA:163596
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Autosomal Dominant Robinow Syndrome
Wide nose, Median cleft lip and palate, Anteverted nares, Depressed nasal bridge, Micrognathia, O... ORPHA:3107
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Micrognathia OMIM:613804
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Supernume... OMIM:268400
Meckel Syndrome
Encephalocele, Aplasia/Hypoplasia of the tongue, Micrognathia, Hydrocephalus, Depressed nasal rid... ORPHA:564
Gorlin-Chaudhry-Moss Syndrome
Hypoplasia of the maxilla, Oligodontia, Aplasia/Hypoplasia of the nasal bone, Abnormality of the ... ORPHA:2095
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Death in infancy OMIM:241800
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Saethre-Chotzen Syndrome
Depressed nasal bridge, Prominent nasal bridge, Hypoplasia of the maxilla, Open bite, Prominent c... ORPHA:794
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Submucous cleft hard palate, Micrognathia OMIM:613805
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Lissencephaly, Death in childhood, Umbilical hernia, Hypertrophic cardiomyopathy, ... OMIM:612938
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Martsolf Syndrome 1
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, High palate, Sh... OMIM:212720
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Lateral ventricle dilatation, Partial agenesis of the corpus callosum, Death in childhood OMIM:619517
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly, Periventricular heterotopia OMIM:619833
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Dental malocclusion, Wide nasal bridge, Localized hypoplasia of dental enamel, Coni... ORPHA:73223
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Raine Syndrome
Mandibular prognathia, Natal tooth, Death in infancy, Depressed nasal bridge, Choanal atresia, Mi... OMIM:259775
Thanatophoric Dysplasia
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:2655
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... ORPHA:69087
Doors Syndrome
Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, High palate, Spina bifi... ORPHA:79500
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal ethmoid bone morphology, Prominent nose, Abnormal mandible condylar process morphology, ... ORPHA:2976
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Increased CSF lactate, Lateral ventricle dilatation, Abn... ORPHA:79243
Holoprosencephaly 1
Proboscis, Alobar holoprosencephaly, Aplasia of the nose, Ethmocephaly, Median cleft lip and palate OMIM:236100
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal at... ORPHA:314679
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Chime Syndrome
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Depressed nasal ri... ORPHA:3474
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide mouth, Long phi... OMIM:612731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Type II lissencephaly, Hydrocephalus, Pachygyria, Agenesis of co... OMIM:613150
Ehlers-Danlos Syndrome, Classic Type, 1
Recurrent sinusitis, Bowel diverticulosis, Irregularly spaced teeth, Narrow maxilla OMIM:130000
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Depressed... ORPHA:2136
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:158350
Distal Deletion 12Q
Median cleft lip, Anteverted nares, Micrognathia, High, narrow palate, Supernumerary tooth, Esoph... ORPHA:96149
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
7Q31 Microdeletion Syndrome
Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Wide mouth, Long philtrum ORPHA:251061
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal steno... ORPHA:1790
Distal Deletion 19P
Hypoplasia of the maxilla, Cleft palate ORPHA:96129
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Hypoplasia of the maxilla, Depressed nasal ridge, Nasal congestion, Hypoplasia o... ORPHA:79345
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Anteverted nares, Abnormality of the dentition, Broad nasal tip, Cleft ... ORPHA:363611
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Gray matter heterotopia, Lateral ventricle dilatation, Bradycardia, Polymicr... OMIM:617397
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Choan... OMIM:166250
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Boomerang Dysplasia
Neonatal death, Hypoplastic nasal septum, Wide nasal bridge, Underdeveloped nasal alae OMIM:112310
Periventricular Nodular Heterotopia 9
Everted upper lip vermilion, High palate, Gingival overgrowth, Hypoplastic philtrum OMIM:618918
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern ORPHA:284417
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Bresek Syndrome
Neonatal death, Hydrocephalus ORPHA:85284
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Gingival o... OMIM:213980
Temple Syndrome
Hydrocephalus ORPHA:254516
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Arrhythmia, Polymic... ORPHA:157
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... OMIM:261540
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Desmosterolosis
Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, Macrogyria, Lissenc... ORPHA:35107
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly OMIM:219730
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Hydrocephalus ORPHA:171839
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Heart block, Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Arrhyt... ORPHA:228308
Hemangioblastoma
Hydrocephalus ORPHA:252054
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosu... OMIM:618476
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Mesiodens, Lo... ORPHA:314647
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Dental crowding, Depressed nasal bri... OMIM:614188
Stickler Syndrome
Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Micrognathia, Hypopl... ORPHA:828
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Lateral ventricle dilatation, Subependymal cysts OMIM:600721
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Malar flattening OMIM:231070
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block... ORPHA:398124
Joubert Syndrome With Renal Defect
Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum ORPHA:220497
1Q44 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:609757
Schwartz-Jampel Syndrome
Pursed lips, Death in infancy, Prominent nasal bridge, Micrognathia, Trismus, Supernumerary tooth... ORPHA:800
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Hydrocephalus, Abnormal cortical gyration, Ventriculomegaly OMIM:614576
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Lateral ventricle dilatatio... OMIM:612863
Hydrolethalus
Agenesis of corpus callosum, Hydrocephalus, Anencephaly ORPHA:2189
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Agenesis of corpus callosum, Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation ORPHA:459061
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft... ORPHA:672
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... OMIM:180500
3C Syndrome
Death in infancy, Hydrocephalus, Abnormality of neuronal migration, Pulmonic stenosis, Aortic val... ORPHA:7
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria OMIM:608629
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Intestinal malrotation, Promi... OMIM:616268
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Pulmonic stenosis, Dandy-Walker malformation, Aortic valve stenosis OMIM:220210
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Umbilical hernia, Lateral ventricle dilatation, Polymicrogyria OMIM:617751
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical... ORPHA:289
Duplication Of The Pituitary Gland
Encephalocele, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus... ORPHA:314621
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, High, nar... ORPHA:2462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly OMIM:616538
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Dandy-Walker ma... OMIM:614424
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... ORPHA:97339
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... ORPHA:2588
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High, narrow palate ORPHA:1101
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Tooth malposition, Depressed nasal bridge, Narrow palate OMIM:277600
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Anteverted nares, Broad nasal tip, Hypoplasia of the maxi... OMIM:617402
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Narrow nasal bridge, Micrognathia, Hypoplasia of the maxilla, Bulbous ... OMIM:259600
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia ORPHA:2119
Meier-Gorlin Syndrome 3
Microretrognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Thick vermili... OMIM:613803
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... ORPHA:353281
Ablepharon Macrostomia Syndrome
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, W... ORPHA:920
Joubert Syndrome With Ocular Defect
Encephalocele, Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum ORPHA:220493
Oculocerebrocutaneous Syndrome
Hydrocephalus, Polymicrogyria, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormality ... ORPHA:513456
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis... OMIM:604292
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hydrocephalus ORPHA:163966
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2554
Arachnoiditis
Hydrocephalus ORPHA:137817
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Telangiectasia, Umbilical hernia, Agenesis of corpus callosum, Dandy-Walker malfor... OMIM:612582
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Lissencephaly, Dandy-Walker malformation, Ventriculomegaly OMIM:617822
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Methylcobalamin Deficiency Type Cble
Hypertension, Hydrocephalus, Ventriculomegaly ORPHA:2169
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Temple Syndrome
Hydrocephalus OMIM:616222
Dominant Beta-Thalassemia
Hyperplasia of the maxilla, Abnormality of the dentition, Depressed nasal bridge, Malar prominence ORPHA:231226
Tenorio Syndrome
Raynaud phenomenon, Hydrocephalus, Syncope, Ventriculomegaly OMIM:616260
Microcephaly 29, Primary, Autosomal Recessive
Hypoplastic philtrum OMIM:620047
Trisomy 1Q
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:261344
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion OMIM:616202
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Joubert Syndrome
Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Thanatophoric Dysplasia Type 1
Gray matter heterotopia, Hydrocephalus, Ventriculomegaly ORPHA:1860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Type II lissencephaly, Pachygyria, Meningoencephalocele, Hydroce... OMIM:236670
Charge Syndrome
Anal stenosis, Choanal atresia, Micrognathia, Cleft upper lip, Esophageal atresia, Anosmia, Trach... OMIM:214800
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernumerary tooth, Aplasia o... OMIM:617088
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Type II lissencephaly, Hy... OMIM:615287
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Emanuel Syndrome
Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation, Agenesis of c... ORPHA:96170
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Zttk Syndrome
Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft ... OMIM:617140
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Hydrocephalus, Lateral ventricle dilatation, Death in childhood OMIM:612301
Combined Pituitary Hormone Deficiencies, Genetic Forms
Depressed nasal ridge, Holoprosencephaly, Median cleft lip and palate ORPHA:95494
Orofaciodigital Syndrome Type 14
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Bulbous nos... ORPHA:434179
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Prominent nasal bridge, Persistence of primary teeth, Broad nasal tip,... OMIM:300166
Gorlin Syndrome
Hydrocephalus ORPHA:377
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation, Periventricular heterotopia OMIM:614105
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Abnormality of neuronal migration ORPHA:2318
Cach Syndrome
Lateral ventricle dilatation, Dysgyria ORPHA:135
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Agenesis of corpus callosum OMIM:612940
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Fibrous Dysplasia Of Bone
Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal mandible morpho... ORPHA:249
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Emanuel Syndrome
Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, Dandy-Walker malformation, Ventriculomegaly OMIM:609029
Greenberg Dysplasia
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Costal cartilage calcification, ... OMIM:215140
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e... OMIM:261740
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Supernumerary ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Supernumerary ... ORPHA:353277
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension OMIM:616482
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Muenke Syndrome
Hydrocephalus ORPHA:53271
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Beta-Thalassemia Major
Hyperplasia of the maxilla, Abnormality of the dentition, Depressed nasal bridge, Malar prominence ORPHA:231214
Tetrasomy 5P
Congestive heart failure, Hydrocephalus, Pulmonary arterial hypertension, Heart murmur ORPHA:3309
Griscelli Syndrome
Encephalocele, Hydrocephalus ORPHA:381
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Simplified gy... OMIM:619244
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Wide nose, Tented upper lip vermilion, Anteverted nares, Depressed nasal b... ORPHA:96334
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Simplified gyral pattern, Lateral ventricle dilatation, ... ORPHA:300570
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hydrocephalus, Hyp... ORPHA:3452
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Fanconi Anemia, Complementation Group B
Death in infancy, Hydrocephalus, Ventriculomegaly OMIM:300514
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... ORPHA:2909
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia, Dilated cardiomyopathy, Colpocephaly, Mitral regurgitation, Ventricu... ORPHA:261250
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus OMIM:602361
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke ORPHA:447788
Bartsocas-Papas Syndrome 1
Anal stenosis, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Underdeveloped nasal ala... OMIM:263650
Adams-Oliver Syndrome
Encephalocele, Gastrointestinal hemorrhage, Portal hypertension, Hydrocephalus, Pulmonary arteria... ORPHA:974
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Multiple Sulfatase Deficiency
Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Witteveen-Kolk Syndrome
Microretrognathia, Thin upper lip vermilion, Wide nose, Anteverted nares, Prominent nasal bridge,... OMIM:613406
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cleft of chin, Cleft palate, Narro... OMIM:101400
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Congenital Sialidosis Type 2
Umbilical hernia, Hydrocephalus, Abnormal EKG, Telangiectasia ORPHA:93400
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, High palate, Tooth malposition OMIM:608328
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:613001
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology ORPHA:3353
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Lateral ventricle dilatation, Hi... OMIM:300952
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... OMIM:175100
Lhermitte-Duclos Disease
Hydrocephalus, Polymicrogyria ORPHA:65285
Congenital Myopathy 22A, Classic
Neonatal death, Tricuspid regurgitation, Normal pressure hydrocephalus, Bradycardia OMIM:620351
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Hypoplasia of the maxill... OMIM:139210
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cleft soft palate, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Pyloric st... ORPHA:268261
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Micrognathia, Underdeveloped nasal alae, Supernumerary tooth, Concave nasal ridge, Ank... OMIM:619525
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:3301
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly ORPHA:59315
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus, Miscarriage ORPHA:1865
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lateral ventricle dilatation, Pulmonic stenosis OMIM:618914
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardiomyopathy, Arrhyth... OMIM:309801
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Dyskeratosis Congenita
Esophageal stenosis, Malabsorption, Hypoplasia of the maxilla, Carious teeth, Tracheoesophageal f... ORPHA:1775
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Choanal atresia, Hydrocephalus, Tracheoesophageal fistula, ... OMIM:107480
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Raynaud phenomenon, Vasculitis, Hypertension, Ventriculome... ORPHA:1855
Meier-Gorlin Syndrome 1
Death in infancy, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Thick vermilion border, ... OMIM:224690
Trisomy 17P
Hydrocephalus, Aortic valve stenosis ORPHA:261290
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
Mosaic Variegated Aneuploidy Syndrome 1
Hydrocephalus, Pulmonic stenosis, Dandy-Walker malformation, Agenesis of corpus callosum, Ventric... OMIM:257300
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Ventriculomegaly OMIM:614969
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Macrogyria, Death in adolescence... OMIM:614866
Alexander Disease
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Hypertension, Hypotension, Agenesis of ... ORPHA:58
15Q Overgrowth Syndrome
Tricuspid regurgitation, Hydrocephalus, Mitral regurgitation, Pulmonary arterial hypertension, Ag... ORPHA:314585
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Occipital meningocele, Polymicrogyria, Ventriculomegaly OMIM:616546
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Fg Syndrome Type 1
Umbilical hernia, Hydrocephalus, Pulmonary arterial hypertension, Ventriculomegaly ORPHA:93932
Desmosterolosis
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:602398
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation, Pachygyria, Agyria ORPHA:2148
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Gardner Syndrome
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:79665
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Capillary Malformation-Arteriovenous Malformation
Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive heart failure, Telangi... ORPHA:137667
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal... ORPHA:397715
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Roberts-Sc Phocomelia Syndrome
Cleft upper lip, Micrognathia, Underdeveloped nasal alae, Hydrocephalus, Frontal encephalocele, W... OMIM:268300
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Abnormality of neuronal migration, Portal hypertension ORPHA:1454
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly OMIM:613603
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Hurler Syndrome
Death in infancy, Angina pectoris, Hydrocephalus, Hypertension, Cardiomyopathy ORPHA:93473
Dextrocardia
Abnormal EKG, Hydrocephalus, T-wave inversion ORPHA:1666
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation, Death in childhood OMIM:619847
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Thin upper lip vermilion, Chronic gastritis, Micrognathia, Carious teeth, ... OMIM:150230
Floating-Harbor Syndrome
Narrow nasal bridge, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celi... ORPHA:2044
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia, Hydrocephalus, Hypertension ORPHA:1555
Mucopolysaccharidosis, Type Ii
Umbilical hernia, Hydrocephalus, Congestive heart failure OMIM:309900
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Bradycardia, Increased CSF lactate ORPHA:565624
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block, Hydrocephalus OMIM:618590
Familial Adenomatous Polyposis
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:733
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Hydrocephalus, Cervical myelopathy, Cardiomyopathy, Mitral regurgitation... OMIM:253200
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Hydrocephalus, Lateral ventricular asymmetry OMIM:616914
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lateral ventricle dilatation, Dilated third ventricle, Partial agenesis of the corpus callosum OMIM:617296
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Neurooculorenal Syndrome
Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callosum, Polymicrogyria, Agen... OMIM:620305
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
8Q24.3 Microdeletion Syndrome
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Mesiodens, Cleft ... ORPHA:508488
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus OMIM:259700
47,Xyy Syndrome
Hydrocephalus ORPHA:8
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Agenesis of corpus callosum, Colpocephaly, Mitral stenosis, Ventriculomegaly OMIM:617260
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Achondroplasia
Hydrocephalus ORPHA:15
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... ORPHA:247806
Rabin-Pappas Syndrome
Hydrocephalus, Retinal telangiectasia OMIM:620155
Monosomy 18Q
Left-to-right shunt, Congestive heart failure, Hydrocephalus, Mitral regurgitation, Aortic valve ... ORPHA:1600
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:620113
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Multiple Sulfatase Deficiency
Hydrocephalus ORPHA:585
Hurler Syndrome
Aortic regurgitation, Hydrocephalus, Cardiomyopathy, Mitral regurgitation, Umbilical hernia OMIM:607014
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation OMIM:619995
Mirage Syndrome
Intracranial hemorrhage, Hydrocephalus OMIM:617053
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus OMIM:608091
Osteopetrosis, Autosomal Recessive 5
Hydrocephalus, Stillbirth, Ventriculomegaly OMIM:259720
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Abnormal cortical gyration, Hydrocephalus, Partial agenesis of the corpus callo... OMIM:210710
Opitz-Kaveggia Syndrome
Gray matter heterotopia, Umbilical hernia, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:305450
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele OMIM:130720
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus ORPHA:2720
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Cardiomyopathy, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia ORPHA:2268
Sturge-Weber Syndrome
Conjunctival telangiectasia, Hydrocephalus, Pulmonary embolism ORPHA:3205
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis OMIM:231005
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
1Q21.1 Microdeletion Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:250989
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Agenesis of corpus callosum ORPHA:268249
Achondroplasia
Death in infancy, Hydrocephalus OMIM:100800
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum ORPHA:1780
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:457284
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Lateral ventricle dilatation, Pulmonic stenosis OMIM:619745
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Hydrocephalus, Congestive heart failure ORPHA:579
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Hydrocephalus, Mitral regurgitati... ORPHA:505248
Primrose Syndrome
Calcification of the auricular cartilage, Anteverted nares, Depressed nasal bridge, Broad nasal t... OMIM:259050
Mucopolysaccharidosis, Type Vii
Umbilical hernia, Hydrocephalus, Cardiomyopathy OMIM:253220
Microphthalmia, Syndromic 1
Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Rectal prolapse, Py... OMIM:309800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Downturned co... ORPHA:500150
H Syndrome
Hydrocephalus, Abnormal cardiovascular system physiology, Facial telangiectasia ORPHA:168569
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus, Telangiectasia of the skin OMIM:616007
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Umbilical hernia, Hydrocephalus OMIM:104350
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:101200
Aicardi-Goutieres Syndrome 9
Pericarditis, Portal hypertension, Hypertension, Lateral ventricle dilatation, Increased blood pr... OMIM:619487
Cerebrooculonasal Syndrome
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:605627
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus c... OMIM:619512
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis OMIM:115150
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Coccidioidomycosis
Pericarditis, CSF pleocytosis, Hydrocephalus, Vasculitis, CSF lymphocytic pleiocytosis, Vasospasm... ORPHA:228123
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Trisomy 8P
Agenesis of corpus callosum, Hydrocephalus, Heart murmur, Dandy-Walker malformation ORPHA:264450
7Q11.23 Microduplication Syndrome
Hydrocephalus, Aortic valve stenosis, Simplified gyral pattern, Ventriculomegaly ORPHA:96121
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis ORPHA:1340
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Monosomy 9Q22.3
Umbilical hernia, Hydrocephalus, Ventriculomegaly ORPHA:77301
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus ORPHA:91350
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Craniopharyngioma
Hydrocephalus, Cerebral ischemia, Myocardial infarction ORPHA:54595
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrhage, Pulmonary arteria... ORPHA:79282
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Stillbirth, Severe hydrocephalu... OMIM:236680
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle ORPHA:544488
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Otopalatodigital Syndrome Type 2
Encephalocele, Myelomeningocele, Hydrocephalus ORPHA:90652
Isotretinoin-Like Syndrome
Hydrocephalus, Aortic valve stenosis ORPHA:2306
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus ORPHA:220295
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Mosaic Trisomy 1
Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum ORPHA:1692
Neurofibromatosis, Type I
Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida OMIM:162200
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Large placenta, Hydrocephalu... OMIM:249000
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus OMIM:618162
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Umbilical hernia, Ventriculomegaly OMIM:618188
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Lateral ventricle dilatation, Dilated third ventricle, Agenesis ... ORPHA:464738
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Hydrocephalus, Heart murmur ORPHA:163979
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta, Partial agenesis of the corpus callosum OMIM:300373
6Q Terminal Deletion Syndrome
Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep... ORPHA:75857
Aymé-Gripp Syndrome
Hydrocephalus, Pericarditis, Ventriculomegaly ORPHA:1272
Khan-Khan-Katsanis Syndrome
Colpocephaly, Tricuspid regurgitation, Ventriculomegaly OMIM:618460
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Mucopolysaccharidosis Type 3
Hydrocephalus, Atrioventricular block, Reduced left ventricular ejection fraction, Umbilical hern... ORPHA:581
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Agen... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Agen... ORPHA:363958
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Agenesis of corpus callosum OMIM:227646
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus OMIM:277400
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Marden-Walker Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:2461
Fontaine Progeroid Syndrome
Death in infancy, Tricuspid regurgitation, Periventricular heterotopia, Hydrocephalus, Gray matte... OMIM:612289
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Hydrocephalus, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia,... ORPHA:2556
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Orthostatic hypotension ORPHA:2822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Type II lissencephaly, Hydrocephalus, Pachygyria, Polymicrogyria, Ventriculomegaly OMIM:253280
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Alobar Holoprosencephaly
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:93924
Semilobar Holoprosencephaly
Abnormal heart rate variability, Neural tube defect, Hydrocephalus, Agenesis of corpus callosum ORPHA:220386
Mend Syndrome
Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation ORPHA:401973
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Eruption failure, Hypoplasia of the tooth germ, Carious teeth OMIM:182250
Mend Syndrome
Hydrocephalus, Aortic valve stenosis, Dandy-Walker malformation OMIM:300960
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia ORPHA:168577
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Polymicrogyria OMIM:154400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypertension, Hydrocephalus, Stillbirth ORPHA:95699
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus ORPHA:538
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus, Agenesis of corpus callosum ORPHA:2658
Gaucher Disease
Death in infancy, Hydrocephalus, Pulmonary arterial hypertension, Ventriculomegaly ORPHA:355
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hydrocephalus ORPHA:536467
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Lateral ventricle dilatation, Pachygyria OMIM:263520
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele... ORPHA:567
Tetrasomy 9P
Pericarditis, Raynaud phenomenon, Hydrocephalus, Pulmonary arterial hypertension, Lissencephaly, ... ORPHA:3310
Yunis-Varon Syndrome
Hydrocephalus, Renovascular hypertension, Hypertension, Cardiomyopathy, Pulmonary arterial hypert... ORPHA:3472
Hajdu-Cheney Syndrome
Umbilical hernia, Hydrocephalus, Mitral stenosis, Aortic valve stenosis ORPHA:955
Fanconi Anemia, Complementation Group L
Hydrocephalus OMIM:614083
Heterotaxy, Visceral, 1, X-Linked
Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Pulmonic stenosis, Mitral stenosis OMIM:306955
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Pulmonary arterial hypertension, Ventriculomegaly ORPHA:2072
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Hydrocephalus, Tricuspid regurgitation ORPHA:261337
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Fanconi Anemia
Spina bifida, Hydrocephalus, Umbilical hernia, Hypertrophic cardiomyopathy, Ventriculomegaly ORPHA:84
Cryptococcosis
Hydrocephalus ORPHA:1546
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Hydrocephalus, Heart murmur, Decreased CSF 5-meth... OMIM:619475
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth, Short umbilical cord, Small placenta OMIM:208150
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly OMIM:617011
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Umbilical hernia, Mitral regurgitation, Aortic regurgitation ORPHA:309282
Craniofacial Microsomia 1
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Branchial anomaly, Malar flattening, Maxil... OMIM:164210
Meningioma
Hydrocephalus, Syncope, Cerebral hemorrhage ORPHA:2495
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Hydrocephalus, Dilated cardiomyopathy, Lateral ventricle dilatation... OMIM:607872
Hajdu-Cheney Syndrome
Umbilical hernia, Hydrocephalus OMIM:102500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Costello Syndrome
Hydrocephalus, Pulmonic stenosis, Arrhythmia, Hypertrophic cardiomyopathy, Ventriculomegaly OMIM:218040
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Hydrocephalus ORPHA:667
Osteogenesis Imperfecta
Aortic regurgitation, Cerebral hemorrhage, Hydrocephalus, Noncommunicating hydrocephalus, Umbilic... ORPHA:666
Cockayne Syndrome B
Hypertension, Arrhythmia, Normal pressure hydrocephalus, Death in childhood OMIM:133540
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Abnormal cortical gyration, Hydrocephalus OMIM:219000
Cockayne Syndrome A
Hypertension, Arrhythmia, Normal pressure hydrocephalus, Ventriculomegaly OMIM:216400
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Baller-Gerold Syndrome
Hydrocephalus, Spina bifida occulta, Agenesis of corpus callosum, Polymicrogyria OMIM:218600
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Short umbilical cord OMIM:618367
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Focal Dermal Hypoplasia
Hydrocephalus, Myelomeningocele, Telangiectasia, Umbilical hernia, Spina bifida occulta, Agenesis... OMIM:305600
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage, Noncommunicating hydrocephalus, Subependymal nodules ORPHA:805
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Lateral ventricle dilatation, Congestive heart failure OMIM:181270
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Ventriculomegaly ORPHA:457359
Wolf-Hirschhorn Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:194190
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Hypertension, Cardiomyopathy, Umbilical hernia, Arrhythmia ORPHA:580
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Neurofibromatosis Type 1
Hypertension, Hydrocephalus ORPHA:636
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hypertrophic cardiomyopathy, Hydrocephalus, Mitral regurgitation, Pulmonic stenosis ORPHA:363700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus OMIM:619321
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Ischemic stroke, Corneal neovascularization OMIM:175780
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:264090
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Peters Plus Syndrome
Hydrocephalus, Pulmonic stenosis, Umbilical hernia, Spina bifida occulta, Ventriculomegaly ORPHA:709
Loeys-Dietz Syndrome 1
Hydrocephalus OMIM:609192
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Pulmonic stenosis ORPHA:3455
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus ORPHA:3042
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Umbilical hernia, Arrhythmia, Agenesis of corpu... OMIM:312870
Genitopatellar Syndrome
Colpocephaly, Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia OMIM:606170
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Lateral ventricle dilatation OMIM:300896
Coffin-Siris Syndrome 12
Noncommunicating hydrocephalus, Heart murmur OMIM:619325
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Loeys-Dietz Syndrome 2
Umbilical hernia, Hydrocephalus OMIM:610168
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Ethmoidal encephalocele ORPHA:280195
Pituitary Stalk Interruption Syndrome
Death in infancy ORPHA:95496

Histopathology

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

There is no histopathology data for Cdon

IMPC related publications

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

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cdon suppresses vascular smooth muscle calcification via repression of the Wnt/Runx2 Axis. Experimental & molecular medicine (January 2023) Cdontm1c(EUCOMM)Hmgu PMC9898282
CDON contributes to Hedgehog-dependent patterning and growth of the developing limb. Developmental biology (October 2022) Cdontm1c(EUCOMM)Hmgu 36265686
Desert Hedgehog-Driven Endothelium Integrity Is Enhanced by Gas1 (Growth Arrest-Specific 1) but Negatively Regulated by Cdon (Cell Adhesion Molecule-Related/Downregulated by Oncogenes). Arteriosclerosis, thrombosis, and vascular biology (October 2020) Cdontm1c(EUCOMM)Hmgu 33028094
Satellite cell-specific ablation of Cdon impairs integrin activation, FGF signalling, and muscle regeneration. Journal of cachexia, sarcopenia and muscle (February 2020) Cdontm1c(EUCOMM)Hmgu Cdontm1a(EUCOMM)Hmgu 32103583

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cdontm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Cdontm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cdontm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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