Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kinesin family member 27
Synonyms:
4930517I18Rik

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 Kif27 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 Kif27 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reversible Cerebral Vasoconstriction Syndrome
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... ORPHA:284388
Moderate Hemophilia A
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... ORPHA:169805
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... OMIM:612444
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Chronic rhinitis, C... OMIM:618699
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
High-frequency hearing impairment, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Familial Cervical Artery Dissection
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Cerebr... ORPHA:36382
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... OMIM:615294
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... OMIM:615504
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Congenital Factor Xiii Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... ORPHA:331
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyski... OMIM:614017
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Immoti... OMIM:242680
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Flared nostrils, Cerebral hemorrhage, Retrognathia, Moyamoya phenomenon, Dilated cardiomyopathy, ... ORPHA:280679
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction OMIM:253240
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Cleft Lip With Or Without Cleft Palate
Hearing impairment, Chronic sinusitis, Recurrent otitis media ORPHA:1991
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal p... OMIM:604571
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Microtia, Depressed nasal bridge, Respiratory insufficiency, Sho... ORPHA:1914
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Pneumonia OMIM:226990
Familial Afibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Cerebral hemorrhage ORPHA:98880
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Hydrocephalus, Convex nasal ridge, Malar flattening, Respiratory i... ORPHA:93262
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Retrognathia, Abnormality of the nares, Moyamoya phenomenon, Dilated cardiom... OMIM:300845
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Micrognathia, Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Nasal polyposis, Chronic otitis media, Communicating hydrocephalus... OMIM:244400
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis OMIM:617092
Wyburn-Mason Syndrome
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... ORPHA:53719
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Chronic otitis media, Cough, Chronic sinusitis, Neonatal respirato... OMIM:618063
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Asthma, Recurrent upper and lower respiratory tract infections, Sinusitis, Otitis media, Atopic d... ORPHA:70593
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Circumvallate Placenta Syndrome
Respiratory insufficiency, Intracranial hemorrhage OMIM:215550
Treacher Collins Syndrome 2
Conductive hearing impairment, Microtia, Micrognathia, Choanal atresia, Choanal stenosis OMIM:613717
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Edinburgh Malformation Syndrome
Hydrocephalus, Micrognathia, Respiratory insufficiency, Short nose, Choanal atresia, Anteverted n... ORPHA:1895
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Cough, Chronic rhinitis, Congenitally corrected t... OMIM:618300
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Dural Sinus Malformation
Hydrocephalus, Pulsatile tinnitus, Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral h... ORPHA:97339
Primary Ciliary Dyskinesia
Hydrocephalus, Anomalous pulmonary venous return, Airway obstruction, Chronic sinusitis, Respirat... ORPHA:244
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... OMIM:612650
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respiratory system phys... OMIM:242670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Pulmonary insufficiency, Recurrent upper respira... ORPHA:277
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Riddle Syndrome
Otitis media, Intraventricular hemorrhage, Conjunctival telangiectasia, Arthritis, Recurrent sinu... ORPHA:420741
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Supernumerary Nostril
Abnormality of ethmoid sinus, Choanal atresia, Supernumerary naris ORPHA:141096
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Immotile cilia, Bronchiectasis... OMIM:606763
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Cough, Wheezing, Chronic sinusitis, Recurrent pneumonia, Ciliary d... OMIM:613808
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus, Bulbous nose, Malar flattening, Depressed nasal bridge, Enamel hypoplasia, Antever... OMIM:600991
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Ciliary dyskinesia, Chronic sinusitis, Chronic otitis media OMIM:612518
Crouzon Syndrome
Conductive hearing impairment, Hydrocephalus, Convex nasal ridge, Respiratory insufficiency, Choa... ORPHA:207
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hearing impairment, Hydrocephalus, Periodontitis ORPHA:1008
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivitis OMIM:612692
Burn-Mckeown Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia ORPHA:1200
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Cerebral hemorrhage, ST segment depression, Hyperglycorrhac... ORPHA:90065
Aspergillosis
Keratitis, Asthma, Sinusitis, Osteomyelitis, Stroke, Chronic pulmonary obstruction, Intracranial ... ORPHA:1163
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Skin rash, Hypotension, Gingival bleedin... ORPHA:99828
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly OMIM:604213
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus OMIM:166990
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Po... ORPHA:326
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... OMIM:619897
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Joint hemorrhage, Cerebral hemorrhage, Bruising susceptibility, Abnormal bleeding, Short nose, Ec... OMIM:277450
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Pettigrew Syndrome
Sensorineural hearing impairment, High-frequency hearing impairment, Hydrocephalus, Prominent nos... OMIM:304340
+173470 integrin, beta-3
Bruising susceptibility, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Gingival bleedi... OMIM:173470
Factor Xiii, A Subunit, Deficiency Of
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... OMIM:613225
Achondroplasia
Conductive hearing impairment, Hydrocephalus, Malar flattening, Depressed nasal bridge, Upper air... OMIM:100800
Ciliary Dyskinesia, Primary, 6
Recurrent sinusitis, Sinusitis, Ciliary dyskinesia, Abnormal ciliary motility OMIM:610852
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stroke, Cerebral hemorrhage, Intracranial hemorrhage, Cerebral ischemia, Arterial stenosis, Lacun... ORPHA:136
Burn-Mckeown Syndrome
Conductive hearing impairment, Protruding ear, Micrognathia, Bilateral choanal atresia, Bilateral... OMIM:608572
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Low-set ears, Hydrocephalus, Apnea, Posteriorly rotated ears OMIM:300864
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Depressed nasal brid... OMIM:609637
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Choanal atresia, Bifid epiglottis OMIM:241850
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Malar flattening, Depressed nasal bridge, Micrognathia, Short nose, Pneumonia, Bronchi... OMIM:242860
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Aortic valve stenosis, Microretrognathia, Depressed nasal bridge, Dilated fourth v... OMIM:220220
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Microretrognathia, Abnormal bleeding, Anteverted nares, Low-set ears OMIM:300884
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis OMIM:614679
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Bifid nasal tip, Wide nose, Choanal atresia, Underdeveloped nasal alae, Abnormal nasal bone morph... ORPHA:521308
Ciliary Dyskinesia, Primary, 14
Otitis media, Neonatal respiratory distress, Wheezing, Cough, Chronic sinusitis, Recurrent pneumo... OMIM:613807
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Pulmonic stenosis, Depressed nasal bridge, Coarctation of aorta, Short nose, Patent... ORPHA:284169
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Congenital Factor Ii Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... ORPHA:325
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re... ORPHA:229717
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Prominent nose, Ventriculomegaly, Macrotia, Dandy-Walker malformation OMIM:617281
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Chroni... ORPHA:33110
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Petechiae, Cerebral hemorrhage, Respiratory insufficiency, P... OMIM:617397
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebra... ORPHA:774
Koolen-De Vries Syndrome Due To A Point Mutation
Laryngomalacia, Underdeveloped nasal alae, Hydrocephalus, Bulbous nose, Protruding ear, Recurrent... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Laryngomalacia, Underdeveloped nasal alae, Hydrocephalus, Bulbous nose, Protruding ear, Recurrent... ORPHA:363958
Fragile X Syndrome
Sinusitis, Protruding ear, Otitis media, Chronic otitis media, Ascending tubular aorta aneurysm, ... ORPHA:908
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, End... ORPHA:183
Factor Vii Deficiency
Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Menorrhagia, Epistaxis OMIM:227500
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Sneddon Syndrome
Hypertension, Ischemic stroke, Stroke, Cerebral hemorrhage OMIM:182410
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Overfolded helix, Abnormality of the pharynx, Choanal atresia, Abnormal ant... ORPHA:2759
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Intraventricular hemorrhage, Skin rash ORPHA:79284
Bamforth-Lazarus Syndrome
Retrognathia, Choanal atresia ORPHA:1226
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Subcutaneous hemorrhage, Skin rash, Peritonitis, Arrhythmia, Vasculitis,... ORPHA:727
Congenital Hydrocephalus
Sensorineural hearing impairment, Hydrocephalus, Bulbous nose, Colpocephaly, Ventriculomegaly, Po... ORPHA:2185
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pneumonia... ORPHA:449280
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Marshall-Smith Syndrome
Conductive hearing impairment, Bruising susceptibility, Retrognathia, Short nose, Choanal atresia... ORPHA:561
Erythrocytosis, Familial, 1
Exertional dyspnea, Myocardial infarction, Cerebral hemorrhage, Hypertension OMIM:133100
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Short ... ORPHA:163961
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Skin rash ORPHA:26
Methanol Poisoning
Permanent atrial fibrillation, Cerebral hemorrhage, Inflammatory arteriopathy, Intracranial hemor... ORPHA:31825
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Choanal stenosis OMIM:179270
Pfeiffer Syndrome Type 2
Respiratory distress, Laryngomalacia, Hydrocephalus, Aqueductal stenosis, Malar flattening, Trach... ORPHA:93259
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro... OMIM:615451
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Protruding ear, Hypoplasia of the maxilla, Wide nasal bridge OMIM:618302
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Distal Trisomy 18Q
Micrognathia, Low-set, posteriorly rotated ears, Carious teeth, Short nose, Choanal atresia, Ante... ORPHA:1716
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media OMIM:618449
Yellow Nail Syndrome
Sinusitis, Rhinitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension, Hypoplasia ... ORPHA:662
Non-Functioning Paraganglioma
Conductive hearing impairment, Hypertension associated with pheochromocytoma, Pulsatile tinnitus,... ORPHA:94080
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Micrognathia, Patent ductus arteriosus, Low-set ears, Underdeveloped nasal alae, W... ORPHA:1516
Lowry-Maclean Syndrome
Hydrocephalus, Convex nasal ridge, Retrognathia, Micrognathia, Coarctation of aorta, Short nose, ... ORPHA:2409
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Gómez-López-Hernández Syndrome
Anteverted nares, Low-set ears, Hydrocephalus ORPHA:1532
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Erythrocytosis, Familial, 2
Stroke, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media OMIM:614379
Rheumatic Fever
Sinusitis, Respiratory insufficiency, Arrhythmia, Endocarditis, Myocarditis, Arthritis, Recurrent... ORPHA:3099
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Abnormal pinna morphology, Microretrognathia, Microtia, Short nose, Low-set ears, ... OMIM:613603
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Hydrocephalus, Bulbous nose, Malar flattening, Depressed nasal... ORPHA:2180
Afibrinogenemia, Congenital
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... OMIM:202400
Granulomatosis With Polyangiitis
Keratitis, Sinusitis, Respiratory insufficiency, Retinal hemorrhage, Chronic otitis media, Cough,... OMIM:608710
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Malar flattening, Depressed nasal bridge, Low-set, posterior... OMIM:123790
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... OMIM:618204
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Abnormal bleeding, Intracranial hemorrhage, Subarachnoid hemorrhage, Purpura, ... ORPHA:853
Temple Syndrome
Hydrocephalus, Depressed nasal bridge, Micrognathia, Wide nose, Recurrent otitis media, Anteverte... OMIM:616222
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Increased CSF lactate, Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Hemidystonia-Hemiatrophy Syndrome
Abnormal paranasal sinus morphology, Advanced pneumatization of cranial sinuses ORPHA:306741
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Microcephaly 10, Primary, Autosomal Recessive
Micrognathia, Choanal atresia, Prominent nasal bridge OMIM:615095
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Eczema, Atopic dermatiti... OMIM:243700
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epistaxis, Prolonged p... OMIM:227600
Immunodeficiency 102
Recurrent skin infections, Recurrent upper respiratory tract infections, Recurrent sinusitis, Chr... OMIM:301082
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Sinusitis, Osteomyelitis, Skin rash, Chronic otitis media, Arth... ORPHA:47
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Hydrocephalus, Depressed nasal bridge, Abnormal nasal morphology ORPHA:83473
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Convex nasal ridge, Respiratory insufficiency, Ventriculomegaly, CSF lymphocytic p... OMIM:610333
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Choanal Atresia
Respiratory distress, Laryngomalacia, Tracheomalacia, Abnormal nasal mucus secretion, Nasal conge... ORPHA:137914
Hemophilia B
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... ORPHA:98879
Felty Syndrome
Sinusitis, Chronic otitis media, Arthritis, Episcleritis, Recurrent pharyngitis, Recurrent pneumo... ORPHA:47612
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Bulbous nose, Protruding ear, Microtia, Tetralogy of Fallot, Cario... ORPHA:2316
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension OMIM:618886
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Cerebral hemorrhage, Optic neuritis, Anterior uveitis, Panniculitis OMIM:301081
Fried Syndrome
Hearing impairment, Hydrocephalus, Macrotia ORPHA:85335
Mucopolysaccharidosis Type 1
Sensorineural hearing impairment, Apnea, Hydrocephalus, Sinusitis, Depressed nasal bridge, Abnorm... ORPHA:579
Pfeiffer Syndrome
Hydrocephalus, Depressed nasal bridge, Short nose, Choanal atresia, Hypoplasia of the maxilla, Ch... OMIM:101600
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Chronic sinusitis, Recurrent cutane... ORPHA:331235
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, B... OMIM:608644
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Stroke, Cerebellar hemorrhage, Recurrent cerebral hemorrhage, Cerebra... OMIM:605714
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Tachy... ORPHA:36234
Primary Angiitis Of The Central Nervous System
Stroke, Cerebral vasculitis, CSF pleocytosis, Intracranial hemorrhage, Abnormal CSF protein level... ORPHA:140989
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Thickened helices, Respiratory distress, Hydrocephalus, Malar flattening, Depressed nasal bridge,... ORPHA:1555
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Sudden cardiac death, Eczema, Hematochezia, Spontaneous hematomas, Prolo... ORPHA:906
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Immunodeficiency 61
Recurrent sinusitis, Recurrent otitis media, Arthritis OMIM:300310
Kleeblattschaedel
Hydrocephalus OMIM:148800
Snakebite Envenomation
Stroke, Respiratory paralysis, Abnormal bleeding, Intracranial hemorrhage, Tachycardia, Cardiogen... ORPHA:449285
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Pulmonic stenosis, Low-set, posteriorly rotated ears, Carious teeth, Short nose, M... ORPHA:2701
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Laryngomalacia, Hydrocephalus, Malar flattening, Microtia, Depressed nasal bridge, Micrognathia, ... ORPHA:171839
Choanal Atresia And Lymphedema
Choanal atresia OMIM:613611
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Hydrocephalus, Convex nasal ridg... ORPHA:87
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Sensorineural hearing impairment, Retrognathia, Cupped ear, Mixed hearing impairment, Recurrent a... OMIM:300472
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia OMIM:263300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Abnormal vascular morphology, Musc... ORPHA:464321
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Choanal atresia, ... OMIM:147250
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent otitis media, Asthma, Viral hepatitis, Skin rash, Rheumatoid arthrit... ORPHA:183675
Anophthalmia Plus Syndrome
Abnormal nasal morphology, Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Apla... ORPHA:1104
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Retrognathia, Cupped ear, Hearing im... ORPHA:52055
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Bulbous nose, Overfolded helix, Respiratory insufficiency, Arrhythmia, Dilated cardiomyopa... OMIM:608836
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Congenital Alpha2-Antiplasmin Deficiency
Joint hemorrhage, Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Bruising s... ORPHA:79
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... ORPHA:90068
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Micrognathia, Short nose, Ventriculomegaly, Anteverted nares, Wide nasal bridge OMIM:618577
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Low-set, posteriorly rotated ears, Choanal atresia, Ventriculomegaly, Anteverted na... ORPHA:494344
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Cyclic Neutropenia
Periodontitis, Sinusitis, Enterocolitis, Recurrent skin infections, Otitis media, Peritonitis, Ph... ORPHA:2686
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Airway obstruction, Cartilaginous ossification o... OMIM:245150
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Chronic sinusitis, Cough, Recurrent otitis media OMIM:619607
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Conductive hearing impairment, Malar flattening, Microtia, Overfolded helix... OMIM:610536
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Abnormal pinna morphology, Malar flattening, Depressed nasal bridge, Choanal atres... OMIM:207410
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutaneous hemorrhage, Post... ORPHA:465
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Osteoglosphonic Dysplasia
Protruding ear, Micrognathia, Choanal atresia, Multiple unerupted teeth, Anteverted nares ORPHA:2645
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent sinusitis, Neonatal respiratory distress, Cough, Bronchiectasis OMIM:300991
Pfeiffer Syndrome Type 3
Respiratory distress, Laryngomalacia, Aqueductal stenosis, Tracheomalacia, Depressed nasal bridge... ORPHA:93260
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... OMIM:600376
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Bulbous nose, Depressed nasal bridge, Wide nasal bridge, Hearing impairment... OMIM:300968
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduc... OMIM:617091
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Bilateral choanal atresia, Short nose, Choanal atresia, Choanal stenosis,... OMIM:619859
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Retinal hemo... OMIM:177850
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Long nose, Communicating hydrocephalus, Tetralogy of Fallot, W... ORPHA:2184
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm ORPHA:261102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Beemer-Ertbruggen Syndrome
Bulbous nose, Micrognathia, Respiratory insufficiency, Low-set, posteriorly rotated ears, Communi... ORPHA:1237
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Infectious encephalitis, P... OMIM:307200
Microform Holoprosencephaly
Asthma, Holoprosencephaly, Tetralogy of Fallot, Narrow nasal bridge, Short nose, Choanal atresia,... ORPHA:280200
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short nose, Macrotia, Anteverted nares, Prominent nasal bridge OMIM:300558
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Mental Retardation, Buenos Aires Type
Dental malocclusion, Hydrocephalus, Protruding ear, Carious teeth, Prominent nose, Mandibular pro... OMIM:249630
6P22 Microdeletion Syndrome
Hydrocephalus, Overfolded helix, Hearing impairment, Patent ductus arteriosus, Low-set ears ORPHA:251046
Frontofacionasal Dysplasia
Depressed nasal ridge, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip, Short nose, ... ORPHA:1791
Granulomatosis With Polyangiitis
Angina pectoris, Pancreatitis, Otitis media, Increased inflammatory response, Gastrointestinal he... ORPHA:900
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Depressed nasal bridge, Respiratory insufficiency, Hearing impa... ORPHA:93274
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Hydrocephalus, Otitis media, Depressed nasal bridge, Central apnea, Hearing impairme... OMIM:616482
Gapo Syndrome
Depressed nasal bridge, Micrognathia, Delayed eruption of teeth, Hearing impairment, Thick nasal ... ORPHA:2067
Mend Syndrome
Hydrocephalus, Aortic valve stenosis, Microretrognathia, Low-set ears, Prominent nasal bridge, Da... OMIM:300960
Sweeney-Cox Syndrome
Microtia, Overfolded helix, Micrognathia, Cupped ear, Hearing impairment, Choanal atresia, Short ... OMIM:617746
Zygomycosis
Melena, Pancreatitis, Gastritis, Myocarditis, Hematochezia, Acute infectious pneumonia, Rhinorrhe... ORPHA:73263
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Ciliary Dyskinesia, Primary, 28
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... OMIM:615505
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media OMIM:620032
Blepharocheilodontic Syndrome 1
Choanal atresia, Neural tube defect OMIM:119580
Mucopolysaccharidosis Type 6
Sinusitis, Recurrent upper respiratory tract infections, Chronic otitis media, Thick nasal alae, ... ORPHA:583
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Depressed nasal ridge, Ethmoidal encephalocele, Choanal atresia, Low-set ears, Posteriorly rotate... OMIM:607597
Fg Syndrome Type 1
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Microtia, Micrognathia, Cupped... ORPHA:93932
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Macrotia, Congestive heart failure OMIM:300886
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Pallister-Hall-Like Syndrome
Hydrocephalus, Depressed nasal bridge, Micrognathia, Short nose, Occipital encephalocele OMIM:241800
Cleidocranial Dysplasia
Sleep apnea, Sinusitis, Supernumerary tooth, Depressed nasal bridge, Micrognathia, Chronic otitis... ORPHA:1452
Diamond-Blackfan Anemia 10
Respiratory distress, Conductive hearing impairment, Malar flattening, Microtia, Micrognathia, At... OMIM:613309
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Infectious encephalitis, Ventriculomegaly, Meningocele, Dandy-Walker mal... ORPHA:2481
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Microtia, Micrognathia, Anotia, Conotruncal defect OMIM:243440
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal bridge, Wide nasal base OMIM:616521
Tenorio Syndrome
Apnea, Hydrocephalus, Raynaud phenomenon, Syncope, Stomatitis, Wide nose, Ventriculomegaly, Pneum... OMIM:616260
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro... OMIM:608647
Nijmegen Breakage Syndrome
Sinusitis, Otitis media, Long nose, Micrognathia, Recurrent bronchitis, Choanal atresia, Recurren... OMIM:251260
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl... ORPHA:572
Chromosome 13Q33-Q34 Deletion Syndrome
Low hanging columella, Pulmonic stenosis, Micrognathia, Anencephaly, Wide nasal bridge, Delayed e... OMIM:619148
Familial Hyperaldosteronism Type Ii
Tinnitus, Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:404
Immunodeficiency 20
Recurrent sinusitis, Wheezing, Recurrent otitis media, Recurrent viral upper respiratory tract in... OMIM:615707
Chromosome 9P Deletion Syndrome
Malar flattening, Retrognathia, Depressed nasal bridge, Micrognathia, Heart murmur, Prominent ant... OMIM:158170
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Depressed nasal bridge, Hydrocephalus, Ventriculomegaly OMIM:602501
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia OMIM:613494
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis ORPHA:820
Kilquist Syndrome
Choanal atresia, Increased CSF albumin concentration, Mandibular prognathia, Low-set ears, Hypopl... OMIM:619080
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Sensorineural hearing impairment, Choanal atresia, Anosmia, Hyposmia OMIM:147950
Joubert Syndrome 14
Low-set ears, Hydrocephalus, Malar flattening, Posteriorly rotated ears, Hypertension, Encephaloc... OMIM:614424
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Otitis media, Cerebral vasculitis, Recurrent upper respiratory tract infections, Pneum... OMIM:613179
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Choanal atresia OMIM:613970
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respiratory distress, Bronchi... OMIM:612649
Raine Syndrome
Hydrocephalus, Abnormal pinna morphology, Protruding ear, Malar flattening, Depressed nasal bridg... OMIM:259775
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Williams-Beuren Region Duplication Syndrome
Hydrocephalus, Overfolded helix, Broad nasal tip, Micrognathia, Chronic otitis media, Patent duct... OMIM:609757
Familial Hyperaldosteronism Type I
Tinnitus, Hypertension, Intracranial hemorrhage, Epistaxis ORPHA:403
Thanatophoric Dysplasia
Hydrocephalus, Depressed nasal bridge, Respiratory insufficiency, Hearing impairment, Patent duct... ORPHA:2655
Whim Syndrome
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Lymphadenitis, Severe peri... ORPHA:51636
Pgm3-Cdg
Sensorineural hearing impairment, Conductive hearing impairment, Asthma, Osteomyelitis, Vasculiti... ORPHA:443811
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Reduced forced expiratory volume in one second, Convex nasal ridge, Low hanging columella, Chroni... OMIM:613385
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... OMIM:613193
Sporadic Pheochromocytoma/Secreting Paraganglioma
Conductive hearing impairment, Hypertension associated with pheochromocytoma, Pulsatile tinnitus,... ORPHA:276621
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Microtia, Intracranial hemorrhage, Respiratory insufficiency, Heart murmur, Overha... ORPHA:163979
Acquired Purpura Fulminans
Skin rash, Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothr... ORPHA:49566
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Micrognathia, Anencephaly, Low-set, posteriorly rotated ears, T... ORPHA:1908
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Thoracic Dysplasia-Hydrocephalus Syndrome
Conductive hearing impairment, Respiratory failure, Communicating hydrocephalus, Depressed nasal ... ORPHA:1861
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, F... ORPHA:228119
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Eczema, Inflammation of th... OMIM:600903
Diencephalic Syndrome
Hydrocephalus, Macrotia ORPHA:1672
Marshall-Smith Syndrome
Apnea, Hydrocephalus, Airway obstruction, Overfolded helix, Depressed nasal bridge, Bilateral con... OMIM:602535
Ciliary Dyskinesia, Primary, 26
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... OMIM:615500
Central Precocious Puberty
Hydrocephalus, Acne ORPHA:759
Microsporidiosis
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... ORPHA:2552
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Chronic sinusitis, Chronic otitis media OMIM:619608
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Congenital Hypothyroidism
Sinusitis, Depressed nasal ridge, Arrhythmia, Hypotension, Hypertension, Hearing impairment, Anosmia ORPHA:442
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Depressed... OMIM:220210
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Cough, Hypoplasia of the maxilla, Anteverted nares, Keratoconjunctivitis sicca... ORPHA:238468
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Bruising susceptibility, Intracranial hemorrhage, Chronic otiti... ORPHA:3226
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Tinnitus, Prolonged QT interval, Hypertension, Epistaxis ORPHA:251274
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Kyphoscoliotic Ehlers-Danlos Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Subdural hemorrhage, Cerebral he... ORPHA:536545
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent... OMIM:615518
Acrofacial Dysostosis, Cincinnati Type
Microtia, Retrognathia, Micrognathia, Anotia, Choanal atresia, Patent ductus arteriosus, Hypoplas... OMIM:616462
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Encepha... ORPHA:2162
Chronic Granulomatous Disease
Sinusitis, Chronic pulmonary obstruction, Otitis media, Eczema, Inflammatory abnormality of the eye ORPHA:379
Chromosome 17P13.1 Deletion Syndrome
Anteverted nares, Hydrocephalus, Prominent nasal bridge OMIM:613776
Lissencephaly 5
Hearing impairment, Hydrocephalus, Occipital encephalocele OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Plasminogen Deficiency, Type I
Periodontitis, Hydrocephalus, Nephritis, Recurrent upper respiratory tract infections, Ventriculo... OMIM:217090
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Atresia of the external auditory canal, Choanal atresia, Patent ductus arter... OMIM:612562
Hydranencephaly
Infantile sensorineural hearing impairment, Abnormal internal carotid artery morphology, Abnormal... ORPHA:2177
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, Recurren... OMIM:614874
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Venous insuf... ORPHA:624
Methimazole Embryofetopathy
Choanal atresia, Coarctation of aorta, Abnormal aortic morphology ORPHA:1923
Central Neurocytoma
Tinnitus, Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Keutel Syndrome
Depressed nasal bridge, Recurrent sinusitis, Hearing impairment, Wide nose, Recurrent otitis medi... ORPHA:85202
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Blepharitis, Conductive hearing impairment, Bilateral choanal atresia, Atresia of the external au... OMIM:106260
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Ciliary dyskin... OMIM:614935
Extracranial Carotid Artery Aneurysm
Stroke, Subarachnoid hemorrhage, Vasculitis, Cerebral ischemia, Total anomalous pulmonary venous ... ORPHA:494424
Apert Syndrome
Dental malocclusion, Hydrocephalus, Malar flattening, Depressed nasal bridge, Chronic otitis medi... OMIM:101200
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Micrognathia, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Abnormality of the cerebrospinal fluid, Lymphadenitis, Increa... ORPHA:449427
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Infectious encephalitis, Hydrocephalus ORPHA:447788
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... OMIM:615444
Fetal Gaucher Disease
Anteverted nares, Depressed nasal bridge, Intracranial hemorrhage, Low-set, posteriorly rotated ears ORPHA:85212
22Q11.2 Deletion Syndrome
Hydrocephalus, Bulbous nose, Overfolded helix, Carious teeth, Acne, Gastrointestinal hemorrhage, ... ORPHA:567
Immunodeficiency, Common Variable, 1
Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Pneumonia, Recurrent otitis media... OMIM:607594
Osteogenesis Imperfecta
Hydrocephalus, Progressive hearing impairment, Delayed eruption of teeth, Carious teeth, Aortic d... ORPHA:666
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Hypoplasia of the maxilla, Ven... OMIM:109120
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Colitis, Recurrent aphthous stomatitis, Perioral eczema OMIM:613960
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis... OMIM:616576
Craniotelencephalic Dysplasia
Hydrocephalus, Low-set, posteriorly rotated ears, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Abnormality of dental color, Yellow-brown discoloration of the teeth, Amelogenesis... ORPHA:1946
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the zygomatic bone, Short nose, Choanal atresia,... ORPHA:83
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Skin rash, Myositis, Arthritis, Conjunctivitis, Panniculitis OMIM:617591
Congenital Toxoplasmosis
Hearing impairment, Hydrocephalus, Ventriculomegaly ORPHA:858
Albers-Schönberg Osteopetrosis
Hydrocephalus, Osteomyelitis, Mandibular osteomyelitis, Osteoarthritis, Arthritis, Carious teeth,... ORPHA:53
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Malar flattening, Abnormal location of ears, Patent ductus arteriosus, Ventriculom... OMIM:218350
Good Syndrome
Sinusitis, Recurrent skin infections, Cough, Bronchiectasis, Dyspnea ORPHA:169105
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Spina bifida occulta, Wide nose, Choanal atresia, Low-set ears OMIM:619227
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Aortic valve stenosis OMIM:615599
Coach Syndrome 2
Hypertension, Hydrocephalus, Apneic episodes in infancy OMIM:619111
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Metatropic Dysplasia
Depressed nasal bridge, Hydrocephalus, Low-set, posteriorly rotated ears ORPHA:2635
Infantile Sialic Acid Storage Disease
Anteverted nares, Hydrocephalus, Congestive heart failure OMIM:269920
Hydrocephalus With Associated Malformations
Micrognathia, Hydrocephalus OMIM:236640
Hereditary Pheochromocytoma-Paraganglioma
Conductive hearing impairment, Hypertension associated with pheochromocytoma, Pulsatile tinnitus,... ORPHA:29072
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
B4Galt1-Cdg
Hydrocephalus, Inflammatory abnormality of the skin, Dandy-Walker malformation, Abnormal bleeding... ORPHA:79332
Nephronophthisis 18
Hydrocephalus, Tubulointerstitial nephritis OMIM:615862
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Hb Bart'S Hydrops Fetalis
Pericarditis, Hydrocephalus, Congestive heart failure ORPHA:163596
Isotretinoin-Like Syndrome
Hydrocephalus, Thin anteverted nares, Aortic valve stenosis, Microtia, Micrognathia, Anotia, Apla... ORPHA:2306
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Low-set, posteriorly rotated ears, Chronic lung disease, Hepatitis, Choanal atresia, Portal hyper... ORPHA:228426
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sleep apnea, Hydrocephalus, Aortic valve stenosis, Depressed nasal bridge, Micrognathia, Mild hea... ORPHA:459061
Diabetic Embryopathy
Hydrocephalus, Microtia, Micrognathia, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Sp... ORPHA:1926
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Tinnitus, Second degree atrioventricular block, Hypertension, Pulmonary ... ORPHA:369929
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Pallister-Hall Syndrome
Bifid epiglottis, Holoprosencephaly, Microtia, Depressed nasal bridge, Hypoplasia of the epiglott... OMIM:146510
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... ORPHA:137667
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arteriovenous malformation, Hydrocephalus, Depressed nasal bridge, Ar... ORPHA:60040
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Palpitations, Intracranial hemorrhage, Tinnitus, Hypertension, Epistaxis ORPHA:231625
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Respiratory insufficiency, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Hydrocephalus, Respiratory failure, Aqueductal stenosis OMIM:276950
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Tetrasomy 5P
Respiratory distress, Hydrocephalus, Micrognathia, Heart murmur, Short nose, Anteverted nares, Lo... ORPHA:3309
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Sensorineural hearing impairment, Hydrocephalus, Retrognathia, Patent ductus arteriosus, Antevert... OMIM:612938
Hydrolethalus
Laryngomalacia, Hydrocephalus, Abnormality of the sense of smell, Retrognathia, Micrognathia, Ane... ORPHA:2189
Immunodeficiency, Common Variable, 2
Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Bronchiec... OMIM:240500
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Laryngomalacia, Hydrocephalus, Depressed nasal bridge, Micrognathia, Short nose, Posteriorly rota... OMIM:619833
Neonatal Lupus Erythematosus
Hydrocephalus, Malar rash, Skin rash, Abnormal bleeding, Maculopapular exanthema, Arrhythmia, Abn... ORPHA:398124
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menorrhagia, Oral cavity blee... ORPHA:324636
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Conjunctivitis, Recurrent otitis media OMIM:613493
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pustule, Abnormality of the cerebrospinal fluid, Hyposmia, Arrhythmia, Increased CSF p... ORPHA:68
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Depressed nasal ridge, Micrognathia, Short nose, Low-set ears ORPHA:163966
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Sensorineural hearing impairment, Bulbous nose, Colpocephaly, Communicating hydrocephalus, Ventri... OMIM:615219
Popov-Chang syndrome
Hydrocephalus, Pulmonic stenosis, Long nose, Depressed nasal bridge, Recurrent otitis media, Ante... OMIM:618428
Hec Syndrome
Abnormality of the pharynx, Respiratory insufficiency, Arrhythmia, Communicating hydrocephalus, C... ORPHA:2119
Achondroplasia
Hydrocephalus, Central sleep apnea, Hypoxemia, Depressed nasal bridge, Short nasal bridge, Restri... ORPHA:15
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Intellectual Developmental Disorder, Autosomal Dominant 65
Bulbous nose, Micrognathia, Noncommunicating hydrocephalus, Macrotia, Anteverted nares, Low-set e... OMIM:619320
Gorlin Syndrome
Hydrocephalus, Abnormality of the sense of smell, Carious teeth, Mandibular prognathia, Wide nasa... ORPHA:377
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent s... ORPHA:217390
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Low-set ears, Hydrocephalus, Short nose, Depressed nasal ridge OMIM:300863
Mirage Syndrome
Hydrocephalus, Petechiae, Aspiration pneumonia, Intracranial hemorrhage, Patent ductus arteriosus OMIM:617053
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Hypoxemia ORPHA:284227
Metaphyseal Chondrodysplasia, Jansen Type
Micrognathia, Hearing impairment, Choanal atresia, Choanal stenosis OMIM:156400
Opitz-Kaveggia Syndrome
Sensorineural hearing impairment, Hydrocephalus, Microtia, first degree, Micrognathia, Prominent ... OMIM:305450
Hallermann-Streiff Syndrome
Convex nasal ridge, Supernumerary tooth, Malar flattening, Tracheomalacia, Micrognathia, Respirat... ORPHA:2108
Propionic Acidemia
Apnea, Pancreatitis, Cerebellar hemorrhage, Eczema, Tachypnea, Cardiomyopathy OMIM:606054
Krabbe Disease
Hearing impairment, Hydrocephalus, Increased CSF protein OMIM:245200
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Chronic otitis media, Pneumonia, Atyp... ORPHA:83471
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Microtia, Pulmonic stenosis, Tracheomalacia, Micrognathia, Bilater... ORPHA:314679
Meningioma
Hydrocephalus, Cerebral hemorrhage, Abnormality of the sense of smell, Progressive pulmonary func... ORPHA:2495
Hellp Syndrome
Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Prolonged prothrombin time ORPHA:244242
Bosma Arhinia Microphthalmia Syndrome
Conductive hearing impairment, Abnormal pinna morphology, Dental malocclusion, Paranasal sinus hy... OMIM:603457
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Conductive hearing impairment, Malar flattening, Microtia, Ret... ORPHA:861
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Pneumonia, Respiratory failure, Palpitations, Tachycardia, Shock, S... ORPHA:340
Whipple Disease
Hydrocephalus, Respiratory insufficiency, Myositis, Hypotension, Myocarditis, Arthritis, Myocardi... ORPHA:3452
Emanuel Syndrome
Hydrocephalus, Aortic valve stenosis, Severe hearing impairment, Dandy-Walker malformation, Low h... ORPHA:96170
Proboscis Lateralis
Abnormal facial skeleton morphology, Holoprosencephaly, Abnormal ethmoid bone morphology, Abnorma... ORPHA:141099
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Wide nasal bridge OMIM:175700
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, Depressed nasal bridge, Micrognathia, Hearing impairment, Posteriorly rotated ears... OMIM:619951
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Arteriovenous malformation, Subcutaneous hemorrhage, Micrognathia, Intracranial ... ORPHA:109
Arachnoiditis
Tinnitus, Hearing impairment, Hydrocephalus ORPHA:137817
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus, Bulbous nose, Protruding ear, Bruising susceptibility, Malar flattening, Prominent... OMIM:612940
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Sensorineural hearing impairment, Sleep apnea, Bulbous nose, Abnormal pinna morphology, Micrognat... OMIM:616975
Congenital Tufting Enteropathy
Choanal atresia, Punctate keratitis, Arthritis ORPHA:92050
Joubert Syndrome
Apnea, Hydrocephalus, Episodic tachypnea, Encephalocele, Anteverted nares, Abnormal pattern of re... ORPHA:475
Desmosterolosis
Hydrocephalus, Micrognathia, Cupped ear, Hypoplastic nasal bridge, Short nose, Total anomalous pu... OMIM:602398
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Pancreatitis, Cerebellar hemorrhage, Tubulointerstitial nephritis, Cardiomy... OMIM:251000
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensorineural hearing impairment, Hydrocephalus ORPHA:99947
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, Sinusitis, Inflammatory abnormality of the skin, Skin rash, Chronic mucocutaneous candidi... OMIM:102700
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus OMIM:273730
Vascular Hyalinosis
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia OMIM:277175
3C Syndrome
Hydrocephalus, Aortic valve stenosis, Pulmonic stenosis, Depressed nasal bridge, Micrognathia, Wi... ORPHA:7
Bresek Syndrome
Hydrocephalus, Protruding ear, Convex nasal ridge, Hearing impairment, Low-set ears ORPHA:85284
Trisomy 17P
Hydrocephalus, Aortic valve stenosis, Malar flattening, Micrognathia, Hearing impairment, Wide no... ORPHA:261290
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Rhombencephalosynapsis
Hydrocephalus, Microretrognathia, Low-set, posteriorly rotated ears, Short nose, Ventriculomegaly... ORPHA:59315
Joubert Syndrome With Oculorenal Defect
Apnea, Hydrocephalus, Low-set, posteriorly rotated ears, Tachypnea, Anteverted nares, Encephaloce... ORPHA:2318
Joubert Syndrome With Renal Defect
Apnea, Hydrocephalus, Low-set, posteriorly rotated ears, Anteverted nares, Abnormal pattern of re... ORPHA:220497
Thanatophoric Dysplasia Type 1
Hydrocephalus, Depressed nasal bridge, Respiratory insufficiency, Patent ductus arteriosus, Ventr... ORPHA:1860
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Hypoplasia of the maxilla, Mandibular prognathia, Hearing impairment, Wide nasal b... OMIM:601499
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Malar flattening, Micrognathia, Cupped ear, Choanal atresia, Low-s... OMIM:263750
Cystic Fibrosis
Reduced forced expiratory volume in one second, Asthma, Pancreatitis, Chronic lung disease, Decre... OMIM:219700
Spondyloepimetaphyseal Dysplasia, Krakow Type
Asthma, Hydrocephalus, Bruising susceptibility, Eczema, Allergic rhinitis, Patent ductus arteriosus OMIM:618162
Charge Syndrome
Overfolded helix, Depressed nasal bridge, Delayed eruption of teeth, Hypoplasia of the semicircul... ORPHA:138
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hydrocephalus, Prominence of the premaxilla, Patent ductus arterio... OMIM:614886
Holoprosencephaly 7
Hypoplasia of the premaxilla, Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Depress... OMIM:610828
Trisomy 1Q
Hydrocephalus, Microretrognathia, Depressed nasal bridge, Wide nose, Patent ductus arteriosus, Ve... ORPHA:261344
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Vascular dilatation, Ventriculomegaly OMIM:602200
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Distal 22Q11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Malar flattening, Abnormal earlobe morphology, Aortic regurgita... ORPHA:261330
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Inspiratory stridor, Spina bifida, Cervical myelopathy OMIM:207950
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Choanal atresia OMIM:113700
Pontocerebellar Hypoplasia, Type 7
Apnea, Hydrocephalus, Broad nasal tip, Micrognathia, Ventriculomegaly, Macrotia, Low-set ears, Wi... OMIM:614969
Trisomy 18
Microretrognathia, Holoprosencephaly, Pointed helix, Anencephaly, Low-set, posteriorly rotated ea... ORPHA:3380
Holoprosencephaly 14
Double outlet right ventricle, Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Holo... OMIM:619895
Craniofacioskeletal Syndrome
Microtia, Micrognathia, Hypoplastic frontal sinuses, Patent ductus arteriosus, Choanal atresia, I... OMIM:300712
Peho Syndrome
Hydrocephalus, Malar flattening, External ear malformation, Short nose, Ventriculomegaly, Macroti... ORPHA:2836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Dandy-Walker malformation OMIM:615287
Duane-Radial Ray Syndrome
Sensorineural hearing impairment, Spina bifida occulta, Choanal atresia, Vascular dilatation, Cho... OMIM:607323
Chromosome 6Pter-P24 Deletion Syndrome
Sensorineural hearing impairment, Low-set ears, Hydrocephalus, Malar flattening, Depressed nasal ... OMIM:612582
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hydrocephalus, Bruising susceptibility, Retrognathia, Narrow nose, Keratoconjunctivitis sicca, La... OMIM:616914
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Sensorineural hearing impairment, Depressed nasal bridge, Hepatitis, Choanal atresia, Portal hype... OMIM:610199
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Sensorineural hearing impairment, Hydrocephalus, Malar flattening, Broad nasal tip, Short nose, M... OMIM:239300
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Communicating hydrocephalus ORPHA:1064
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus, Abnormality of the sphenoid sinus ORPHA:91350
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Malar flattening, Long nose, Depressed nasal bridge, Short nose, Right bundle bran... OMIM:618590
Intellectual Developmental Disorder, Autosomal Dominant 36
Anteverted nares, Hydrocephalus, Ventriculomegaly OMIM:616362
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Hydrocephalus, Respiratory failure requiring assisted ventilation, Neonatal ... OMIM:310400
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Epididymitis, Spontaneous h... ORPHA:99827
Muenke Syndrome
Sensorineural hearing impairment, Hydrocephalus, Malar flattening ORPHA:53271
Desmosterolosis
Large earlobe, Hydrocephalus, Anomalous pulmonary venous return, Retrognathia, Depressed nasal br... ORPHA:35107
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Low-set ears, Choanal atresia OMIM:270420
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Abnormal bleeding, Retrognathia, Inflammation of the large intestine, Enamel hypop... OMIM:614576
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Tricuspid regurgitation, Cupped ear, Patent ductus arteriosu... OMIM:612863
Cornelia De Lange Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Otitis media, Depressed nasal br... OMIM:122470
Coccidioidomycosis
Respiratory distress, Hydrocephalus, Pancreatitis, Hypoglycorrhachia, Pneumonia, Pericarditis, Os... ORPHA:228123
Tetraamelia Syndrome 1
Hydrocephalus, Micrognathia, Choanal atresia, Low-set ears, Single naris OMIM:273395
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hydrocephalus, Retrognathia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose... ORPHA:1812
Orofaciodigital Syndrome Type 1
Abnormal dental enamel morphology, Micrognathia, Wide nasal bridge, Chronic otitis media, Hypopla... ORPHA:2750
Glutaryl-Coa Dehydrogenase Deficiency
Subependymal nodules, Subdural hemorrhage, Retinal hemorrhage, Communicating hydrocephalus, Ventr... ORPHA:25
Monosomy 18Q
Sensorineural hearing impairment, Hydrocephalus, Bulbous nose, Aortic valve stenosis, Left-to-rig... ORPHA:1600
Poikiloderma With Neutropenia
Blepharitis, Skin rash, Retrognathia, Depressed nasal bridge, Micrognathia, Carious teeth, Recurr... OMIM:604173
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Abnormal pinna morphology, Malar flattening, Holoprosencephaly, Micrognathia, Depr... OMIM:612651
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Mucopolysaccharidosis, Type Ii
Asthma, Hydrocephalus, Airway obstruction, Sleep apnea, Delayed eruption of teeth, Tracheobroncho... OMIM:309900
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Depressed nasal bridge, Short nose, Ventriculomegaly, Anteverted nares, Low-set ea... OMIM:617822
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Joubert Syndrome With Ocular Defect
Apnea, Hydrocephalus, Low-set, posteriorly rotated ears, Anteverted nares, Abnormal pattern of re... ORPHA:220493
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis OMIM:307000
Superficial Siderosis
Arteriovenous malformation, Persistent bleeding after trauma, Abnormality of the cerebrospinal fl... ORPHA:247245
Mohr Syndrome
Conductive hearing impairment, Hydrocephalus, Agenesis of central incisor, Malar flattening, Broa... OMIM:252100
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Hydrocephalus, Aqueductal stenosis, Inspiratory stridor, Ventriculomegal... ORPHA:1136
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Abnormal pinna morphology OMIM:147800