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 |