Gene: Adgra3 MGI:1925810

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adhesion G protein-coupled receptor A3
Synonyms:
Gpr124,  8430414O08Rik,  9530074E10Rik,  Tem5

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Adgra3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Adgra3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Brain Small Vessel Disease 3
Cerebral hemorrhage, Cerebral calcification, Leukoencephalopathy, Cerebral atrophy OMIM:618360
Cerebral Cavernous Malformations 3
Abnormal cerebral morphology, Cerebral hemorrhage OMIM:603285
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral calcification OMIM:116860
Brain Small Vessel Disease 2
Porencephalic cyst, Intracranial hemorrhage, Ventriculomegaly, Polymicrogyria, Schizencephaly OMIM:614483
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Ventriculomegaly, Megalencephaly, Hydrocephalus OMIM:615938
Methanol Poisoning
Basal ganglia necrosis, Bilateral basal ganglia lesions, Abnormal caudate nucleus morphology, Int... ORPHA:31825
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage, Death in early adulthood, Cerebral calcification, Cerebral amyloid a... ORPHA:100006
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus, Hypertension OMIM:166990
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Recurrent subcortical infarcts, Abnormal cerebral white... ORPHA:136
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Pseudo-Torch Syndrome 2
Ventriculomegaly, Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Polymicrogyria, Cereb... OMIM:617397
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Increased CSF lactate, Death in adolescence, Death in infancy, Neona... OMIM:619055
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Acys Amyloidosis
Cerebral hemorrhage, Death in early adulthood, Cerebral amyloid angiopathy, Stroke ORPHA:100008
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Increased CSF lactate, ST segment depression, Hypertension, Hypopituitarism, Abn... ORPHA:90065
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Recurrent subcortical infarcts, Stroke, Abnormal CSF protein level, Cere... ORPHA:140989
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Microcephaly, Hydrocephalus ORPHA:398189
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate OMIM:258320
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Congenital Factor Xiii Deficiency
Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage,... ORPHA:331
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Pseudo-Torch Syndrome 3
Abnormal cerebral white matter morphology, Death in infancy, Hypertension, Cerebral hemorrhage, C... OMIM:618886
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Colpocephaly,... ORPHA:2185
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Edinburgh Malformation Syndrome
Death in infancy, Hydrocephalus OMIM:129850
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Hypertension, Cerebral hemorrhage, Dilated cardiomyopathy, ... ORPHA:280679
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Cerebral calcification ORPHA:99966
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Cerebral hemorrhage, Stroke-like episode, Abnormal cerebral vascular morphol... OMIM:300845
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Menkes Disease
Intracranial hemorrhage, Microcephaly, Death in childhood OMIM:309400
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
B4Galt1-Cdg
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Thick cerebral cortex, Dilation of lateral ventricles ORPHA:101071
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Ventriculomegaly, Death in infancy, Meningocele, Dandy-Walker malformation ORPHA:2481
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis... ORPHA:449285
Familial Afibrinogenemia
Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding ORPHA:98880
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip, Laryngomalacia ORPHA:2373
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency, Abnormality of the pharynx ORPHA:2291
Cerebral Visual Impairment
Ischemic stroke, Intracranial hemorrhage, Abnormal cerebral white matter morphology, Abnormal cer... ORPHA:447788
Vascular Hyalinosis
Subarachnoid hemorrhage, Cerebral calcification, Hematochezia OMIM:277175
Glutaryl-Coa Dehydrogenase Deficiency
Open operculum, Abnormal caudate nucleus morphology, Pallidal degeneration, Ventriculomegaly, Sub... ORPHA:25
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Riddle Syndrome
Conjunctival telangiectasia, Intraventricular hemorrhage, Abnormal cerebral white matter morpholo... ORPHA:420741
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Microcephaly, Periventricular white matter hyperdensities, Cleft palate OMIM:618768
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Cerebral calcification ORPHA:624
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Agenesis of corpus callosum, Hydrocephalus, Dilation of lateral ventricles OMIM:300864
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising sus... ORPHA:99828
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Subependymal cysts, Neonatal death, Bradycardia, Dilation of l... OMIM:610015
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Hypoplasia of the corpus callosum, Microcephaly, Cleft upper lip, Cleft palate OMIM:601420
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morphology, G... ORPHA:53719
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Death in childhood, Cerebral ca... OMIM:610333
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Death in infancy, Simplified gyral pattern, Agenesis of corpus callosum, Partial a... OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Anterior hypopituitarism, Death in infancy, Microglossia, Pul... OMIM:241800
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Polycythemia Vera
Cerebral hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Gastrointestinal hemorrhage OMIM:263300
Hydranencephaly
Antenatal intracerebral hemorrhage, Dysgenesis of the thalamus, Abnormal corpus striatum morpholo... ORPHA:2177
Cleft Velum
Cleft soft palate, Aspiration pneumonia, Velopharyngeal insufficiency ORPHA:99772
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Mitral regurgitation, Megalencephaly, Hydrocephalus ORPHA:83473
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Dilation of lateral ventricles, Subependymal cysts, Multifocal cerebral whi... OMIM:600721
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Type II lissencephaly, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:613154
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
Cardiofaciocutaneous Syndrome 4
Pulmonic stenosis, Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Cerebral vasculitis OMIM:243700
Fetal Gaucher Disease
Intracranial hemorrhage, Neonatal death, Death in infancy, Stillbirth ORPHA:85212
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Ventriculomegaly, Abnormal cerebral white matter morphology, D... OMIM:613153
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis, Laryngeal cleft OMIM:615706
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus ORPHA:26
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Patent ductus arteriosus, Dilated fourth ventricle,... OMIM:220220
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Calcification of falx cerebri, Cerebral hemorrhage,... OMIM:177850
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Adducted Thumbs Syndrome
Cerebral dysmyelination, Cleft palate, High palate, High, narrow palate, Microcephaly, Velopharyn... OMIM:201550
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Hydrocephalus OMIM:300886
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Agenesis of corpus callosum, Intraventricular hemorrhage, Hypoplasia of the corpus ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Agenesis of corpus callosum, Intraventricular hemorrhage, Hypoplasia of the corpus ... ORPHA:363958
Kleeblattschaedel
Hydrocephalus OMIM:148800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Basal ganglia cysts, Ventriculomegaly, Intracereb... OMIM:608836
Fried Syndrome
Hydrocephalus, Cerebral calcification ORPHA:85335
Linear Skin Defects With Multiple Congenital Anomalies 3
Ventricular tachycardia, Ventricular fibrillation, Cardiac arrest, Dilated cardiomyopathy, Agenes... OMIM:300952
Pettigrew Syndrome
Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-... OMIM:304340
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke OMIM:263400
Coffin-Siris Syndrome 11
Bulbous nose, Downturned corners of mouth, Esophageal atresia, Wide mouth, Bifid uvula, High pala... OMIM:618779
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Microcephaly, Cleft palate ORPHA:506353
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Abnormal cerebral white matter morphology, Smooth philtrum, Abnormality ... ORPHA:576283
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Weaver-Williams Syndrome
Microcephaly, Narrow mouth, Cleft palate ORPHA:3448
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bulbous nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Wide nasal bridge, Cleft upper... OMIM:300958
Infantile Sialic Acid Storage Disease
Congestive heart failure, Death in childhood, Hydrocephalus, Cerebral atrophy OMIM:269920
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Hydrocephalus, Abnormal cerebral white matter morphology ORPHA:352682
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Agenesis of corpus callosum, ... OMIM:174300
Temple Syndrome
Short philtrum, Cleft palate, Bifid uvula, High palate, Anteverted nares, Hydrocephalus, Wide nos... OMIM:616222
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Melanosis, Neurocutaneous
Dandy-Walker malformation, Death in infancy, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Increased CSF lactate, Ventri... ORPHA:79243
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Hydrocephalus, Cerebral arteriovenous malformation, Vein of Galen aneurysmal m... ORPHA:137667
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Anterior hypopituitarism, Intracranial hemorrhage, Enlarged pituitary gland, ... ORPHA:91350
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... ORPHA:1528
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:324416
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy, Hypertrophic cardiomyopathy OMIM:614096
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus, Wide nasal bridge, Gingival overgrowth, Broad nasal tip, Bifid uvula, H... OMIM:618658
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Hydrolethalus Syndrome 2
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Anencephaly OMIM:614120
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr... ORPHA:99147
Arthrogryposis, Distal, Type 1C
Pursed lips, Thin vermilion border, Narrow mouth, Cleft lip, Cleft palate, Bifid uvula, High palate OMIM:619110
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Abnormality of the dentition, Thin upper lip vermilio... OMIM:616331
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Thin vermilion border, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Dilated cardi... ORPHA:272
Achondroplasia
Megalencephaly, Hydrocephalus OMIM:100800
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Cerebral arteriovenous malforma... OMIM:610655
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Abnormal globus pallidus morphology, Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Patent ductus arteriosus, Hydrocephalus ORPHA:1516
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Microcephaly, Submucous cleft hard palate, Cleft palate ORPHA:2521
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Patent ductus arteriosus, Dandy-Walker malformation, Protruding tongue, Cleft palat... OMIM:612938
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Coach Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Hypertension OMIM:619111
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Nasal polyposis, Midline defect of the nose, Abnormal ... ORPHA:1993
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Amish Lethal Microcephaly
Ventriculomegaly, Death in infancy, Cleft soft palate, Microcephaly, Agenesis of corpus callosum,... ORPHA:99742
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus OMIM:602501
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Increased CSF lactate, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:565624
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Ventricular extrasystoles, Syncope, Posteriorly placed tongue, Tachycardia... OMIM:192445
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Ischemic stroke, Nail bed telangiectasia, Lip telangiectasia, Hemate... OMIM:600376
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus ORPHA:397951
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Cleft palate, Bifid uvula, High, narrow palate, Anteverted nares, Depresse... OMIM:604841
1Q21.1 Microduplication Syndrome
Hydrocephalus ORPHA:250994
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Pontocerebellar Hypoplasia, Type 13
Short philtrum, Pleural effusion, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Mic... OMIM:618606
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Underdeveloped nasal alae, Choanal atresia, ... OMIM:608572
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Hypophosphatasia, Infantile
Intracranial hemorrhage, Death in infancy, Stillbirth OMIM:241500
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:261102
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Dand... OMIM:225790
Mirage Syndrome
Intracranial hemorrhage, Petechiae, Patent ductus arteriosus, Hydrocephalus OMIM:617053
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:404
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Epistaxis, Hypertension ORPHA:403
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Hypoplasia of the corpus callosum, Megalencephaly, Polymicrogyria, Thick corpus callo... OMIM:603387
Childhood Apraxia Of Speech
Abnormal caudate nucleus morphology, Drooling, High, narrow palate, Caudate atrophy, Submucous cl... ORPHA:209908
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Dilation of lateral ventricl... ORPHA:284417
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Ce... ORPHA:99901
Hydrolethalus
Agenesis of corpus callosum, Absent septum pellucidum, Arrhinencephaly, Tracheal atresia, Anencep... ORPHA:2189
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Agenesis of corp... ORPHA:2182
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Hypertension, Cerebral calcif... ORPHA:1855
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate, Depressed nasal bridge OMIM:601492
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bulbous nose, Deep philtrum, Bilateral cleft lip, Death in... OMIM:618622
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus ORPHA:2736
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Hydranencephaly, Cleft palate, Microcephaly OMIM:601355
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Bulbous nose, Death in infancy, Wide nasal bridge, Cleft palate, Microcephaly ORPHA:93946
Meningioma
Focal T2 hypointense thalamic lesion, Enlarged pituitary gland, Hypothalamic hypothyroidism, Abno... ORPHA:2495
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Hypertension ORPHA:251274
Congenital Toxoplasmosis
Microcephaly, Ventriculomegaly, Hydrocephalus, Cerebral calcification ORPHA:858
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Death in infancy, Communicating hydrocephalus OMIM:600559
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:187300
Kleefstra Syndrome 2
Bifid uvula, Microcephaly, Everted lower lip vermilion OMIM:617768
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus ORPHA:759
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus, Aortic regurgitation ORPHA:2181
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility ORPHA:3226
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus ORPHA:251046
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Type II lissencephaly, Ventriculomegaly, Anencephaly, Cortical dyspl... OMIM:615287
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Nasal polyposis, Median cleft lip OMIM:155145
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Patent ductus arteriosus, Age... OMIM:218350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arrhythmia, Ventriculomegaly, Telangiectasia of the skin, Polymicrogyria, Cerebral ischemia, Hydr... ORPHA:60040
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Propionic Acidemia
Cerebral atrophy, Cerebellar hemorrhage, Cardiomyopathy OMIM:606054
Hb Bart'S Hydrops Fetalis
Pericarditis, Congestive heart failure, Hydrocephalus ORPHA:163596
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Submucous cleft hard palate, Supernumerary tooth, Bifid uvula,... OMIM:617412
Neonatal Lupus Erythematosus
Abnormal bleeding, Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal cer... ORPHA:398124
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Porencephalic cyst, Ischemic stroke, Cerebral hemorrhage, Cortical dysplasia, Focal cortical dysp... OMIM:175780
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Bulbous nose, Abnormal caudate nucleus morphology, Choroid plexus cyst, Smooth ph... ORPHA:293725
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus, Cerebral calcification ORPHA:2770
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Narrow mouth, Wide nasal bridge OMIM:224410
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Tempi Syndrome
Intracranial hemorrhage, Telangiectasia ORPHA:284227
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:618577
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Pulmonic stenosis, Microcephaly, Submucous cleft hard palate OMIM:619239
Emanuel Syndrome
Dental crowding, Submucous cleft lip, Patent ductus arteriosus, High palate, Hydrocephalus, Long ... ORPHA:96170
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Tracheomalacia, Cleft upper lip, Cleft palate, Bifid uvula, Mitral regu... OMIM:612561
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy ORPHA:2701
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Abnormal cerebral cortex morphology ORPHA:163961
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atrophy, Death i... OMIM:614576
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Agenesis of corpus callosum, Type II lissencephaly, Ventricul... ORPHA:370959
Mend Syndrome
Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation OMIM:300960
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hypoplasia of the corpus callosum, Megalencephaly, Congestive heart failure, Pulmonary arterial h... OMIM:616482
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Oral cavity bleeding, Epi... ORPHA:324636
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthostatic hypotension, Hy... ORPHA:2822
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Hypodontia, Glossoptosis, Microcephaly, High, narrow palate, Submucous cleft hard palate ORPHA:3201
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus ORPHA:616
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Pulmonary hypoplasia, Cleft palate, Depressed nasal bridge OMIM:256050
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Wide mouth, Bifid uvula, High palate, Microdontia, Microcephaly, Widely spaced teet... OMIM:266920
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly, Death in childhood, C... OMIM:618651
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilated cardiomyopathy, Mitral regurgitation... ORPHA:261250
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Hydrocephalus, Leukoencephalopathy OMIM:615181
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave ORPHA:231625
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Dandy-Walker malformation OMIM:147800
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles ORPHA:420179
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Dilation of... ORPHA:572798
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Cerebral atrophy, Patent ductus arteriosus, Hydrocephalus ORPHA:171839
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum, Decreased resp... OMIM:609053
Krabbe Disease
Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus OMIM:245200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Intracranial hemorrhage, Patent ductus arteriosus, Heart murmur, Microcephaly, Hydrocephalus ORPHA:163979
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Linear Skin Defects With Multiple Congenital Anomalies 1
Arrhythmia, Agenesis of corpus callosum, Hydrocephalus, Absent septum pellucidum, Microcephaly, C... OMIM:309801
Extracranial Carotid Artery Aneurysm
Arteritis, Subarachnoid hemorrhage, Hypertension, Stroke, Cerebral ischemia, Vasculitis ORPHA:494424
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Intestinal malrotation, Dandy-Walker malformation ORPHA:3032
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Dilation of lateral ventricles, Dandy-Walker malformation ORPHA:3078
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Tonne-Kalscheuer Syndrome
Narrow mouth, Downturned corners of mouth, Wide nasal bridge, Pulmonary hypoplasia, Microcephaly,... OMIM:300978
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:618914
Hypomandibular Faciocranial Dysostosis
Short nose, Narrow mouth, Laryngeal hypoplasia, Patent ductus arteriosus, Aplasia/Hypoplasia of t... ORPHA:1790
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Bresek Syndrome
Microcephaly, Neonatal death, Hydrocephalus ORPHA:85284
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Cleft palate, Bifid uvula, High palate, Pyloric stenosis, Anteverte... ORPHA:96184
Mental Retardation, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Hydrocephalus OMIM:616362
Desmosterolosis
Anomalous pulmonary venous return, Pachygyria, Narrow mouth, Short nose, Absent septum pellucidum... ORPHA:35107
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Abnormal palate morphol... ORPHA:2712
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Cerebral atrophy, Stroke, Pulmonary embolism, Leukoe... ORPHA:79282
Congenital Disorder Of Glycosylation, Type Id
Bulbous nose, Villous atrophy, Cerebral atrophy, Wide nasal bridge, Bifid uvula, High palate, Mic... OMIM:601110
Cach Syndrome
Microcephaly, T2 hypointense thalamus, Cerebral atrophy, Dilation of lateral ventricles ORPHA:135
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Prolonged prothrombin time, Internal hemorrhage ORPHA:244242
Ritscher-Schinzel Syndrome 1
Pulmonic stenosis, Aortic valve stenosis, Hydrocephalus, Dandy-Walker malformation, Decreased res... OMIM:220210
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage, Enlarged sylvian cister... ORPHA:247245
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:175700
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Patent ductus arterios... ORPHA:90308
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus ORPHA:93274
Mental Retardation, Buenos Aires Type
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:249630
Schilbach-Rott Syndrome
Narrow mouth, Prominent nose, Bifid uvula, Microcephaly, Long nose, Submucous cleft hard palate OMIM:164220
Tenorio Syndrome
Cavum septum pellucidum, Ventriculomegaly, Cerebral cortical atrophy, Hydrocephalus, Raynaud phen... OMIM:616260
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft upper lip, Cleft palate OMIM:614402
Aspergillosis
Intracranial hemorrhage, Stroke ORPHA:1163
Holoprosencephaly 3
Ventriculomegaly, Solitary median maxillary central incisor, Proboscis, Cleft lip, Cleft palate, ... OMIM:142945
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Small, conical teeth, Hypodontia, Narrow nose, Bifid uvu... OMIM:129400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Ventriculomegaly, Abnormal cereb... OMIM:618476
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Intestinal malrotation, Submucous cleft hard palate, Pulmonic s... ORPHA:3426
Joubert Syndrome 14
Hypertension, Hydrocephalus, Dandy-Walker malformation OMIM:614424
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Intestinal malrotation, Hydrocephalus OMIM:236640
Chromosome 13Q33-Q34 Deletion Syndrome
Open mouth, Choanal atresia, Patent ductus arteriosus, Anencephaly, High palate, Anal atresia, Cl... OMIM:619148
Thanatophoric Dysplasia
Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus ORPHA:2655
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:617866
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Drooling, Downturned corners of mouth, Hypoplasia of the corpus ca... OMIM:619121
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Laryngotracheomalacia, Aortic valve stenosis, Laryngeal web, Mitral stenosis, Cleft palate, Bifid... OMIM:617660
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Bulbous nose, Hypoplasia of the corpus callosum, Ventriculomegaly, Choanal atresia... OMIM:300968
Meckel Syndrome 12
Wide nasal bridge, Bifid uvula, Microcephaly, Cerebral hypoplasia, Anteverted nares, Agenesis of ... OMIM:616258
Opitz Gbbb Syndrome, Type Ii
Patent ductus arteriosus, Cerebral cortical atrophy, Pulmonary arterial hypertension, High palate... OMIM:145410
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Perivascular spaces, Hyperintensity of cerebral white matter on MRI, ... ORPHA:544488
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Methylcobalamin Deficiency Type Cble
Ventriculomegaly, Abnormal cerebral white matter morphology, Hypertension, Microcephaly, Hydrocep... ORPHA:2169
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Wide nasal bridge, Bifid uvula, Broad philtrum, Abnormal trachea morphology ORPHA:2872
Sturge-Weber Syndrome
Conjunctival telangiectasia, Stroke, Pulmonary embolism, Cerebral cortical atrophy, Cerebral calc... ORPHA:3205
Mental Retardation, Autosomal Dominant 35
Ventriculomegaly, Hydrocephalus OMIM:616355
Khan-Khan-Katsanis Syndrome
Microcephaly, Patent ductus arteriosus, Colpocephaly, Tricuspid regurgitation OMIM:618460
Walker-Warburg Syndrome
Pachygyria, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker... ORPHA:899
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Short nose, Downturned corners of mouth, Abnormal soft ... ORPHA:884
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
1Q41Q42 Microdeletion Syndrome
Broad nasal tip, Underdeveloped nasal alae, Thick vermilion border, Submucous cleft hard palate, ... ORPHA:250999
Hec Syndrome
Arrhythmia, Communicating hydrocephalus, Cardiomyopathy ORPHA:2119
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Chromosome 18Q Deletion Syndrome
Short philtrum, Downturned corners of mouth, Ventriculomegaly, Abnormal cerebral white matter mor... OMIM:601808
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Long philtrum, Downturned corners of mouth, Deep philtrum, In... ORPHA:404440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agenesis of corpus callosum, Type II lissencephaly, Agyria, Microcephaly, Progressive microcephal... OMIM:615249
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Neonatal death, Pulmonary hypoplasia, Hydranencephaly, Anteverted nares OMIM:236500
Williams-Beuren Region Duplication Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Patent ductus arteriosus, Hydrocephalus, Dec... OMIM:609757
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus OMIM:613776
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Adrenocorticotropic hormone excess, Pituitary carcinoma, I... ORPHA:199244
Temple Syndrome
Hydrocephalus, Decreased response to growth hormone stimuation test ORPHA:254516
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of the corpus callosum, Ventriculomegaly, Decrea... OMIM:241410
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral hemorrhage, Arterial rupture, B... ORPHA:536545
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Wide mouth, Hypodontia, Anterior open-bite mal... ORPHA:3473
Neu-Laxova Syndrome
Abnormality of the mouth, Pachygyria, Abnormality of the philtrum, Absent septum pellucidum, Ever... ORPHA:2671
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Focal polymicrogyria, Bulbous nose, Partial agenesis of the corpus callosum, Wide mouth, Submucou... OMIM:619103
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid hemorrhage, Abnormal left ventri... ORPHA:91387
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Ventriculomegaly, Patent ductus arteriosus, Smooth philtrum, Abnormality of the de... ORPHA:363444
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Short nose, Patent ductus arteriosus, Submucous cleft soft palate, Microcephaly, Wide nasal bridg... ORPHA:2282
Meckel Syndrome, Type 6
Anencephaly, Pulmonary hypoplasia, Cleft upper lip, Cleft palate, Hydrocephalus OMIM:612284
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral ventricles, Menin... ORPHA:397715
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus, Dandy-Walk... OMIM:220219
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Pulmonary hypoplasia OMIM:615228
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus OMIM:613603
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus OMIM:614195
Holoprosencephaly 13, X-Linked
Agenesis of corpus callosum, Patent ductus arteriosus, Aplasia of the nose, Solitary median maxil... OMIM:301043
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Stillbirth, Pulmonic stenosis, Aortic valve stenosis, Pulmonary hypoplasia, H... OMIM:615415
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Pulmonary hypoplasia, Dental crowding OMIM:617468
Raine Syndrome
Enamel hypoplasia, Short nose, Narrow mouth, Natal tooth, Choanal atresia, Wide mouth, Protruding... OMIM:259775
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Pleural effusion, Ventriculomegaly, Wide nasal bridge, Unilateral cleft lip, Pulmonar... OMIM:616897
Fanconi Anemia, Complementation Group B
Hypoplasia of the corpus callosum, Ventriculomegaly, Patent ductus arteriosus, Death in infancy, ... OMIM:300514
Buratti-Harel Syndrome
Laryngomalacia, Recurrent pneumonia, Bifid uvula, High palate, Velopharyngeal insufficiency, Subm... OMIM:619314
Nephronophthisis 18
Hydrocephalus OMIM:615862
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Pulmonary hypoplasia, Cleft upper lip, Cleft palate, Hydro... OMIM:313850
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Marden-Walker Syndrome
Long philtrum, Narrow mouth, Microcephaly, Pulmonary hypoplasia, Cleft palate, High palate, High,... OMIM:248700
Osteogenesis Imperfecta
Aortic regurgitation, Ventriculomegaly, Cerebral hemorrhage, Bruising susceptibility, Hydrocephal... ORPHA:666
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men... ORPHA:1908
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Renal Tubular Dysgenesis
Microcephaly, Pulmonary hypoplasia ORPHA:3033
Orofaciodigital Syndrome Iii
Bulbous nose, Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Hypodontia, Bifid uvula, High palate, Dental malocclusion, Depressed n... OMIM:612350
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus OMIM:207950
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly, Intracerebral periventricu... ORPHA:228308
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation ORPHA:459061
3C Syndrome
Ventriculomegaly, Death in infancy, Pulmonic stenosis, Aortic valve stenosis, Hydrocephalus, Dand... ORPHA:7
Adams-Oliver Syndrome
Porencephalic cyst, Gastrointestinal hemorrhage, Periventricular leukomalacia, Pulmonary arterial... ORPHA:974
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Pulmonary arterial ... ORPHA:464738
Fryns Syndrome
Long philtrum, Agenesis of corpus callosum, Ventriculomegaly, Intestinal malrotation, Wide mouth,... ORPHA:2059
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Smooth philtrum, Wide nasal bridge, Thin upper lip vermilion, Pulmonary... OMIM:618316
Osteopetrosis, Autosomal Recessive 5
Microcephaly, Cerebral atrophy, Hydrocephalus, Stillbirth OMIM:259720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Agyria, Cerebral calcificati... OMIM:616538
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Pachygyria, Agenesis of corpus callosum, Polymicrogyria, Abnormality of the basal gan... ORPHA:157
L1 Syndrome
Hydrocephalus, Aqueductal stenosis ORPHA:275543
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Epistaxis, Bruising susceptib... ORPHA:464329
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Anteverted nares OMIM:613124
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hydrocephalus ORPHA:163966
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Orofaciodigital Syndrome Type 4
Choanal atresia, Oral cleft, Cerebral cortical atrophy, Rectovaginal fistula, High, narrow palate... ORPHA:2753
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Abnormal cerebral white matte... ORPHA:395
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Pierre-Robin sequence, Sudden cardiac death, Tachycardia, Cleft palate, B... OMIM:614921
Tetrasomy 5P
Long philtrum, Short nose, Hydrocephalus, Lipoma of corpus callosum, Wide nasal bridge, Heart mur... ORPHA:3309
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Holoprosencephaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:77298
Osteopetrosis, Autosomal Recessive 7
Death in childhood, Death in infancy, Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Cri-Du-Chat Syndrome
Short philtrum, Downturned corners of mouth, Wide nasal bridge, Oral cleft, Anterior open-bite ma... OMIM:123450
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Agenesis of corpus callosum, Absent septum pellucidum, ... ORPHA:87
Peroxisome Biogenesis Disorder 12A (Zellweger)
Microcephaly, Cerebral atrophy, Patent ductus arteriosus, Hydrocephalus OMIM:614886
Microcephaly-Micromelia Syndrome
Narrow mouth, Aplasia/Hypoplasia of the corpus callosum, Pulmonary hypoplasia, Cleft palate, Micr... OMIM:251230
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Wide nasal bridge, Aortic valve stenosis, Cerebral calcification, Clef... ORPHA:2780
Serkal Syndrome
Oral cleft, Pulmonic stenosis, Pulmonary hypoplasia, Malrotation of small bowel ORPHA:139466
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Hydrocephalus, Dandy-W... OMIM:611134
Apert Syndrome
Delayed eruption of teeth, Anomalous tracheal cartilage, Narrow palate, Agenesis of corpus callos... OMIM:101200
Arnold-Chiari Malformation Type Ii
Agenesis of corpus callosum, Ventriculomegaly, Aqueductal stenosis, Meningocele, Polymicrogyria, ... ORPHA:1136
Gorlin Syndrome
Hydrocephalus, Cerebral calcification ORPHA:377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Holoprosencephaly, Pulmonic steno... OMIM:253800
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Enlarged sylvian cistern, Hypoplasia of the corpus callosum, Cerebral atrophy,... OMIM:615802
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Hypopituita... ORPHA:54595
Edinburgh Malformation Syndrome
Hydrocephalus ORPHA:1895
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ... ORPHA:394
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Myocardial infarction, Myocarditis, Hydro... ORPHA:3452
Hemangioblastoma
Hydrocephalus ORPHA:252054
Prader-Willi Syndrome Due To Translocation
Carious teeth, Downturned corners of mouth, Patent ductus arteriosus, Anterior pituitary hypoplas... ORPHA:177907
Congenital Sialidosis Type 2
Petechiae, Telangiectasia, Hydrocephalus, Abnormal EKG ORPHA:93400
1Q44 Microdeletion Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:238769
Histiocytoid Cardiomyopathy
Agenesis of corpus callosum, Hydrocephalus, Wolff-Parkinson-White syndrome, Atrial flutter, Atria... ORPHA:137675
Distal Monosomy 10Q
Cavum septum pellucidum, Patent ductus arteriosus, Spina bifida occulta, Microcephaly, Dilation o... ORPHA:96148
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Pulmonary hypoplasia, Abnormal trachea morphology, Cleft pa... ORPHA:2257
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Hamart... ORPHA:137888
Cog5-Cdg
Microcephaly, Diffuse cerebral atrophy, Cerebral white matter atrophy, Dilation of lateral ventri... ORPHA:263487
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hematochezia, Epistaxis, Stroke, Mitral regurgitation, Telan... OMIM:175050
Limb-Mammary Syndrome
Bifid uvula, Cleft palate, Hypodontia OMIM:603543
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hydrocephalus, Dandy... ORPHA:1647
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventriculomegaly, Hydrocephalus OMIM:615630
Multiple Sulfatase Deficiency
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Increased C... OMIM:272200
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Wide nasal bridge, Broad nasal tip OMIM:615524
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Communicating hydrocephalus ORPHA:2184
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal cerebral white matter morp... ORPHA:457279
Cerebrocostomandibular Syndrome
Long philtrum, Anomalous tracheal cartilage, Porencephalic cyst, Anal stenosis, Patent ductus art... OMIM:117650
Megalocornea-Mental Retardation Syndrome
Long philtrum, Wide nasal bridge, Cerebral cortical atrophy, Bifid uvula, High palate, Microcepha... OMIM:249310
Stickler Syndrome, Type I
Pierre-Robin sequence, Depressed nasal bridge, Cleft palate, Bifid uvula, Anteverted nares, Submu... OMIM:108300
Popov-Chang syndrome
Pulmonic stenosis, Hydrocephalus, Hypertension OMIM:618428
Trisomy 1Q
Patent ductus arteriosus, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus ORPHA:261344
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Menkes Disease
Intracranial hemorrhage, Microcephaly, Spontaneous hematomas, Gastrointestinal hemorrhage ORPHA:565
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Pulmonary hypoplasia, Cleft palate, Dandy-Walker malformation, Depressed n... ORPHA:994
Functioning Gonadotropic Adenoma
Panhypopituitarism, Increased circulating gonadotropin level, Hydrocephalus, Anterior hypopituita... ORPHA:91348
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spinal dysraphism, Hydrocephalus ORPHA:1926
Beare-Stevenson Cutis Gyrata Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Hypertension OMIM:123790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Pachygyria, Type II lissencephaly, Agenesis of corpus callosum, Ventriculomegaly, Death in infanc... OMIM:613150
Cockayne Syndrome Type 3
Cerebral white matter atrophy, Subdural hemorrhage, Stroke, Subcortical white matter calcificatio... ORPHA:90324
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Smooth philtrum OMIM:614526
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Hypertension, Aortic valve stenosis, Congestive heart failure, Mitral re... ORPHA:363618
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Dental crowding, Cleft palate, Bifid uvula, High, narrow palate, Thick lower lip ... OMIM:309583
Peho Syndrome
Porencephalic cyst, Ventriculomegaly, Cerebral cortical atrophy, Microcephaly, Hydrocephalus ORPHA:2836
Juvenile Polyposis Syndrome
Narrow mouth, Cerebral arteriovenous malformation, Hamartomatous stomach polyps, Juvenile gastroi... ORPHA:2929
Kohlschutter-Tonz Syndrome-Like
Ventriculomegaly, Death in adolescence, Secondary microcephaly, Microcephaly, Dilation of lateral... OMIM:619229
Bannayan-Riley-Ruvalcaba Syndrome
Intracranial hemorrhage, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris ORPHA:109
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Orofaciodigital Syndrome Type 3
Bulbous nose, Hamartoma of tongue, Abnormality of the dentition, Irregular dentition, Lobulated t... ORPHA:2752
Chromosome 6Pter-P24 Deletion Syndrome
Agenesis of corpus callosum, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Dandy-Walke... OMIM:612582
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Crouzon Disease
Hydrocephalus ORPHA:207
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Minicore Myopathy With External Ophthalmoplegia
High palate, Pulmonary hypoplasia, Recurrent respiratory infections OMIM:255320
Arachnoiditis
Hydrocephalus ORPHA:137817
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hypoplasia of the corpus callosum, Right bundle branch block, Hydrocephalus, Cerebral atrophy OMIM:618590
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus, Bruising susceptibility, Hydrocephalus OMIM:618162
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Agenesis of permanent teeth, Short lingual frenulum, Short uvula, Pulmonary hypoplasia, Microdont... OMIM:614091
Birk-Barel Syndrome
Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion, Bifid uvula, High palate OMIM:612292
Trisomy 17P