banner
Genes Phenotypes Help, News, Blog

Gene: Kif27 MGI:1922300

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Sensorineural hearing impa... OMIM:616430
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:615294
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Intraventricular hemorrhage, Hydrocephalus, Wide nasal ... OMIM:613603
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615504
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Wide nose, Cerebral hemorrhage, Dilated cardiomyopathy, Flared nostrils, Hypertension, Ischemic s... ORPHA:280679
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media OMIM:312863
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ventriculomegaly, Moyamoya phenomenon ORPHA:401986
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus, Myelomeningocele, Respi... ORPHA:1914
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Chronic sinusitis, Bronchiectasis OMIM:253240
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Conductive ... ORPHA:93262
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Otitis media, High-frequency hearing impairment OMIM:300455
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Decreased nasal n... OMIM:618063
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Micrognathia ORPHA:1538
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:616481
Familial Afibrinogenemia
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Pa... OMIM:618300
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Respiratory insufficiency, Low-se... ORPHA:1895
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Absent frontal sinuses, Conductive heari... OMIM:244400
Primary Ciliary Dyskinesia
Conductive hearing impairment, Chronic otitis media, Neonatal respiratory distress, Bronchiectasi... ORPHA:244
Dural Sinus Malformation
Pulsatile tinnitus, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrha... ORPHA:97339
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:612650
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Supernumerary Nostril
Abnormality of ethmoid sinus, Supernumerary naris, Choanal atresia ORPHA:141096
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Asthma, Bronchiectasis, Respiratory insufficiency, Decreased nasal nitric oxide,... OMIM:616037
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Neonatal asphyxia, Recurrent... ORPHA:420741
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Choanal atresia OMIM:612247
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Chronic otitis media, Emphysema, Chronic sinusitis OMIM:604571
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dyskinesia, Chronic sinu... OMIM:614679
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Nasal polyposis, Wheezing, Recurrent pneumonia, Bronchiectasis, Co... OMIM:613808
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Immotile cilia, Otitis media, C... OMIM:606763
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Conjunctivi... ORPHA:207
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis, Hearing impairment ORPHA:1008
Ciliary Dyskinesia, Primary, 10
Chronic otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis OMIM:612518
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Recurrent upper respiratory... ORPHA:277
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... ORPHA:1163
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus OMIM:166990
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hyperglycorr... ORPHA:90065
Chudley-Mccullough Syndrome
Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly OMIM:604213
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Holoprosencephaly 5
Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu... OMIM:609637
Dengue Fever
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest,... ORPHA:99828
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi... ORPHA:70593
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, H... OMIM:300845
Developmental And Epileptic Encephalopathy 36
Abnormal bleeding, Microretrognathia, Anteverted nares, Hydrocephalus, Low-set ears OMIM:300884
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Short ... OMIM:277450
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Burn-Mckeown Syndrome
Mandibular prognathia, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Bilate... OMIM:608572
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis OMIM:610852
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Ventriculomegaly, Cerebral hemorrhage, Patent ductus arterio... OMIM:617397
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Patent ductus arteriosus, Bulb... ORPHA:284169
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdeveloped nasal alae, Bifid nasa... ORPHA:521308
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Brain Small Vessel Disease 2
Intracranial hemorrhage, Ventriculomegaly OMIM:614483
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... ORPHA:397596
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Pneumonia, Micrognathia, Bronchiectasis, Low... OMIM:242860
Ciliary Dyskinesia, Primary, 14
Neonatal respiratory distress, Wheezing, Recurrent pneumonia, Bronchiectasis, Abnormal ciliary mo... OMIM:613807
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Dilated fourth ventricle, Depressed nasal bridge, Patent ductus arteriosus, Hy... OMIM:220220
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Arthritis, Otitis media, ... ORPHA:229717
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Bronch... ORPHA:33110
Koolen-De Vries Syndrome Due To A Point Mutation
Prominent nasal bridge, Eczema, Underdeveloped nasal alae, Spina bifida, Intraventricular hemorrh... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Prominent nasal bridge, Eczema, Underdeveloped nasal alae, Spina bifida, Intraventricular hemorrh... ORPHA:363958
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Nasal congestion, Re... OMIM:300991
Fragile X Syndrome
Mandibular prognathia, Sinusitis, Protruding ear, Ascending tubular aorta aneurysm, Otitis media,... ORPHA:908
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Bamforth-Lazarus Syndrome
Bifid epiglottis, Bilateral choanal atresia OMIM:241850
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Ciliary Dyskinesia, Primary, 50
Chronic sinusitis OMIM:620356
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... ORPHA:183
Bamforth-Lazarus Syndrome
Retrognathia, Choanal atresia ORPHA:1226
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Choanal atresia, Dyspnea, Wide nasal bridge, Resp... ORPHA:2759
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... ORPHA:727
Congenital Hydrocephalus
Posteriorly rotated ears, Bulbous nose, Hydrocephalus, Sensorineural hearing impairment, Colpocep... ORPHA:2185
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Intraventricular hemorrhage, Skin rash ORPHA:79284
Granulomatosis With Polyangiitis
Subglottic stenosis, Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hem... OMIM:608710
Pfeiffer Syndrome Type 2
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus... ORPHA:93259
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Retrognathia, Conductive hearing impairment, Short nose, Bruis... ORPHA:561
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Hydrocephalus, Retr... ORPHA:163961
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Scedosporiosis
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Arthralgia/arthritis, Osteomyelitis, ... ORPHA:449280
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Conjunctivitis, Recurrent pneumonia, Chronic sinusitis OMIM:612692
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Skin rash ORPHA:26
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea OMIM:133100
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Non-Functioning Paraganglioma
Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitin... ORPHA:94080
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Mic... ORPHA:1716
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear OMIM:618302
Radial Ray Hypoplasia With Choanal Atresia
Choanal stenosis, Depressed nasal bridge, Choanal atresia OMIM:179270
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media OMIM:614379
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Hydr... ORPHA:2409
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Yellow Nail Syndrome
Sinusitis, Dyspnea, Bronchiectasis, Rhinitis, Hypoplasia of lymphatic vessels, Cough, Pulmonary a... ORPHA:662
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Gómez-López-Hernández Syndrome
Hydrocephalus, Anteverted nares, Low-set ears ORPHA:1532
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Low-set ears, Convex nasa... OMIM:610333
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Micrognathia, Underdeveloped nasal alae, Hydrocephalus, Patent ductus arteriosus, Wide nasal brid... ORPHA:1516
Choanal Atresia
Respiratory distress, Subglottic stenosis, Upper airway obstruction, Nasal congestion, Laryngomal... ORPHA:137914
Hemidystonia-Hemiatrophy Syndrome
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology ORPHA:306741
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension OMIM:263400
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Increased CSF lactate OMIM:619055
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Respiratory insufficiency... ORPHA:3099
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal nasal morphology, Mitral regurgitation, Depressed nasal bridge, Hydrocephalus ORPHA:83473
Immunodeficiency 15A
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... OMIM:618204
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morpholog... ORPHA:2180
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eczema, Subarachnoid hemorrhage, Eosinophilic infiltration of the esophagus,... OMIM:243700
Pfeiffer Syndrome
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Hydroc... OMIM:101600
Immunodeficiency 102
Recurrent skin infections, Recurrent upper respiratory tract infections, Bronchiectasis, Recurren... OMIM:301082
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Sensorineural hearing... ORPHA:47
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Microcephaly 10, Primary, Autosomal Recessive
Prominent nasal bridge, Choanal atresia, Micrognathia OMIM:615095
Fried Syndrome
Hydrocephalus, Macrotia, Hearing impairment ORPHA:85335
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertension OMIM:618886
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Depressed nasal bridge, Anteverted nares, Choanal atresia, Hydrocephalus, A... ORPHA:1555
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pharyngitis, Recurrent pneumonia, Synovitis, Art... ORPHA:47612
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Primary Angiitis Of The Central Nervous System
Cerebral vasculitis, Transient ischemic attack, CSF pleocytosis, Intracranial hemorrhage, Stroke,... ORPHA:140989
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis,... OMIM:608644
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Recu... OMIM:300472
Mucopolysaccharidosis Type 1
Sinusitis, Depressed nasal bridge, Apnea, Abnormal nasal morphology, Congestive heart failure, Hy... ORPHA:579
Johnson Neuroectodermal Syndrome
Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Protruding ear, Microtia, Atresia of the e... ORPHA:2316
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Patent ductus arteriosus, Hydrocephalus, ... ORPHA:171839
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Panuveitis, Panniculitis, Optic neuritis OMIM:301081
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypopl... ORPHA:87
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Ecchymosis, Infectious encephali... ORPHA:36234
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Cup... ORPHA:52055
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Hearing impairment, Broad nasal tip, Retinal telangiectasia, Micrognathia,... OMIM:620157
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Abnormal pinna morphology, Micrognathia, Respiratory insufficiency due to muscle w... OMIM:618291
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... ORPHA:906
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Anteverted nares, Carious teeth, Hydrocephalus, Pulmonic steno... ORPHA:2701
Choanal Atresia And Lymphedema
Choanal atresia OMIM:613611
1Q21.1 Microduplication Syndrome
Hydrocephalus, Tetralogy of Fallot ORPHA:250994
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Abnormal nasal morphology, Apla... ORPHA:1104
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Micrognathia, Hydrocephalus, Wide nasal bridge, Short nose, Ventriculomegaly OMIM:618577
Kleeblattschaedel
Hydrocephalus OMIM:148800
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Micrognathia, Ventriculomeg... ORPHA:494344
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Mic... ORPHA:949
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... OMIM:147250
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Ventriculomegaly, Apnea, Posteriorly rotated ears, Bulbous nose, D... OMIM:608836
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus ORPHA:398189
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... ORPHA:331235
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Frontal encephalocele, Hydrocephalus, Aortic aneurysm ORPHA:261102
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Anteverted nares, Choanal atresia, Depressed nasal bridge, Pro... OMIM:123790
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Laryngomalaci... ORPHA:93260
Cyclic Neutropenia
Pharyngitis, Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Enterocolitis, ... ORPHA:2686
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, D... ORPHA:1791
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Pneumonia, Allergic rhini... ORPHA:183675
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Choanal atresia, Micrognathia, Overfolded helix, Microtia... OMIM:610536
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage, Dentinogenesis imperfecta OMIM:616507
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Hydrocephalus, Upper airway o... OMIM:207410
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial... ORPHA:90068
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Chronic sinusitis, Decreased nasal nitric oxide, Cough OMIM:619607
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Low-set ears, Short ... OMIM:619859
Osteoglosphonic Dysplasia
Anteverted nares, Choanal atresia, Micrognathia, Protruding ear, Multiple unerupted teeth ORPHA:2645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Ventriculomegaly, Depressed nasal bridge, Choanal atresia, Posteriorly rota... OMIM:300968
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Micrognathia, Bulbous nose, Wide ... ORPHA:1237
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:2184
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Joubert Syndrome 14
Encephalocele, Posteriorly rotated ears, Prominent nasal bridge, Hydrocephalus, Meningocele, Intr... OMIM:614424
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Lig4 Syndrome
Psoriasiform dermatitis, Prominent nose, Asthma, Wide nasal bridge, Telangiectasia, Chronic sinus... OMIM:606593
Microform Holoprosencephaly
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Asthma, Holoprosenceph... ORPHA:280200
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Posteriorly rotated ears, Choanal atresia, Depressed nasal ridge, Low-set ears, Ethmoidal encepha... OMIM:607597
Fg Syndrome Type 1
Choanal atresia, Micrognathia, Prominent nose, Hydrocephalus, Cupped ear, Sensorineural hearing i... ORPHA:93932
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Cough, Chronic otitis media, Vasculitis, Chronic pulmonary obstruction, ... ORPHA:900
Sweeney-Cox Syndrome
Choanal atresia, Uplifted earlobe, Broad nasal tip, Underdeveloped nasal alae, Micrognathia, Pate... OMIM:617746
Mucopolysaccharidosis Type 6
Sinusitis, Recurrent upper respiratory tract infections, Chronic otitis media, Thick nasal alae, ... ORPHA:583
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Wide nasal base, Wide nasal bridge OMIM:616521
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Abnor... ORPHA:2067
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Low-set ears, Overfolded helix, Hearing impairment ORPHA:251046
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Respiratory insuf... ORPHA:93274
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator... OMIM:615505
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Fusion of middle ear ossicles, Microtia, Hypopl... OMIM:613717
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage, Dandy-Walker malformation, Infectious encephalitis, Ventric... ORPHA:2481
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Keutel Syndrome
Sinusitis, Depressed nasal bridge, Cartilaginous ossification of nose, Cartilaginous ossification... OMIM:245150
Immunodeficiency 32B
Pneumonia, Sinusitis, Bronchiectasis OMIM:226990
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Conotruncal defect, Anotia, Microtia OMIM:243440
Diamond-Blackfan Anemia 10
Respiratory distress, Posteriorly rotated ears, Choanal atresia, Micrognathia, Patent ductus arte... OMIM:613309
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Hydrocephalus, Macrotia OMIM:300886
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Hydrocephalus, Short nose, Macrotia OMIM:300558
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ... OMIM:608647
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Conductive hearing impairment, Respiratory failure, Depressed nasal ... ORPHA:1861
Kilquist Syndrome
Mandibular prognathia, Increased CSF albumin concentration, Choanal atresia, Hypoplasia of teeth,... OMIM:619080
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Depressed nasal bridge, Abnormal den... ORPHA:1452
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Encephalocele, Posteriorly rotated ears, Choanal atresia, Hearing impa... OMIM:619148
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Chromosome 9P Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Posteriorly rotated ears... OMIM:158170
Immunodeficiency 20
Recurrent otitis media, Wheezing, Recurrent viral upper respiratory tract infections, Recurrent s... OMIM:615707
Blepharocheilodontic Syndrome 1
Neural tube defect, Choanal atresia OMIM:119580
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Posteriorly rotated ears, Choanal atresia, Portal hypertension, Reduced forced expiratory volume ... OMIM:613385
Tenorio Syndrome
Mandibular prognathia, Wide nose, Anteverted nares, Apnea, Raynaud phenomenon, Hydrocephalus, Rec... OMIM:616260
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Choanal atresia OMIM:613970
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Micrognathia OMIM:614120
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recu... OMIM:612649
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Depressed nasal bridge, Ventriculomegaly OMIM:602501
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Tinnitus, Epistaxis ORPHA:403
Ciliary Dyskinesia, Primary, 25
Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:615482
Raine Syndrome
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Depressed nasal bridge, Choanal atr... OMIM:259775
Williams-Beuren Region Duplication Syndrome
Micrognathia, Broad nasal tip, Patent ductus arteriosus, Hydrocephalus, Chronic otitis media, Ove... OMIM:609757
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Wide nose, Osteomyelitis, Recurrent skin infections, Eczema, Micrognath... OMIM:618282
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis m... OMIM:613179
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitin... ORPHA:276621
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Posteriorly rotated ears, Choanal atresia, Underdeveloped nasal alae, Patent ductus arteriosus, H... ORPHA:163979
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... ORPHA:572
Marshall-Smith Syndrome
Apnea, Choanal stenosis, Aspiration pneumonia, Recurrent aspiration pneumonia, Microretrognathia,... OMIM:602535
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Encephalocele, Low-set, posteriorly rotated ears, Micrognathia, Hydrocepha... ORPHA:1908
Pgm3-Cdg
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Osteomyelitis, Al... ORPHA:443811
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... ORPHA:49566
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Sensorineural hearing impairment, Anosmia, Choanal atresia OMIM:147950
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Rhin... OMIM:615500
Temple Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hydr... OMIM:616222
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Mandibular prognathia, Cerebral hemorrhage, Subdural hemorrhage, Respirator... OMIM:620278
Thanatophoric Dysplasia
Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Low-s... ORPHA:2655
Whim Syndrome
Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respirato... ORPHA:51636
Central Precocious Puberty In Male
Hydrocephalus, Acne ORPHA:649929
Microsporidiosis
Pharyngitis, Myositis, Sinusitis, Osteomyelitis, Pneumonia, Cholangitis, Abnormal vocal cord morp... ORPHA:2552
Diencephalic Syndrome
Hydrocephalus, Macrotia ORPHA:1672
Fusariosis
Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cough, Keratitis, ... ORPHA:228119
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Tinnitus, Epistaxis ORPHA:404
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough... ORPHA:238468
Rabin-Pappas Syndrome
Mandibular prognathia, Hypoventilation, Broad nasal tip, Retinal telangiectasia, Micrognathia, Hy... OMIM:620155
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Macrotia, Ano... OMIM:616462
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Sensorineural hearing impairment, Intracranial hemorrhage, Respiratory f... ORPHA:3226
Holoprosencephaly
Depressed nasal ridge, Absent nares, Holoprosencephaly, Dandy-Walker malformation, Encephalocele,... ORPHA:2162
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Chronic sinusitis, Decreased nasal nitric oxide OMIM:619608
Ritscher-Schinzel Syndrome 1
Depressed nasal bridge, Micrognathia, Hydrocephalus, Double outlet right ventricle, Pulmonic sten... OMIM:220210
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Depressed nasal bridge, Choan... OMIM:101200
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Hydrocephalus, Frontal encephalocele ORPHA:1528
Adams-Oliver Syndrome 2
Depressed nasal bridge, Micrognathia, Bulbous nose, Hydrocephalus, Protruding ear, Lateral ventri... OMIM:614219
Immunodeficiency 13
Nasal polyposis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasi... OMIM:615518
Emanuel Syndrome
Broad jaw, Chronic oral candidiasis, Ventriculomegaly, Truncus arteriosus, Delayed eruption of pr... OMIM:609029
Diamond-Blackfan Anemia 7
Choanal atresia, Patent ductus arteriosus, Atresia of the external auditory canal, Esophagitis, R... OMIM:612562
Central Neurocytoma
Abnormal lateral ventricle morphology, Tinnitus, Hydrocephalus ORPHA:73256
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Pe... OMIM:217090
Methimazole Embryofetopathy
Abnormal aortic morphology, Choanal atresia, Coarctation of aorta ORPHA:1923
Nephronophthisis 18
Hypertension, Tubulointerstitial nephritis, Hydrocephalus OMIM:615862
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Hearing impairment OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Patent ductus arteriosus, Wide nasal bridge, Conjunctivitis, Atresia o... OMIM:106260
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent sinusitis... OMIM:620197
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due to defec... OMIM:614935
Keutel Syndrome
Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, Pulmonary artery stenosis, Recurren... ORPHA:85202
Pallister-Hall-Like Syndrome
Occipital encephalocele, Depressed nasal bridge, Micrognathia, Hydrocephalus, Short nose OMIM:241800
Ciliary Dyskinesia, Primary, 22
Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Imm... OMIM:615444
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Fetal Gaucher Disease
Intracranial hemorrhage, Depressed nasal bridge, Anteverted nares, Low-set, posteriorly rotated ears ORPHA:85212
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... ORPHA:494424
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Micrognathia, Hearing impairment, Conductive hearing impairment, Sensorineur... ORPHA:536545
Amelocerebrohypohidrotic Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... ORPHA:1946
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Chronic otitis media, Conductive hearing impairmen... ORPHA:567
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Hypoplasia of the zygomatic... ORPHA:83
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Osteogenesis Imperfecta
Abnormality of dental color, Convex nasal ridge, Micrognathia, Osteoarthritis, Neonatal respirato... ORPHA:666
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Tinnitus ORPHA:251274
B4Galt1-Cdg
Abnormal bleeding, Inflammatory abnormality of the skin, Hydrocephalus, Wide nasal bridge, Low-se... ORPHA:79332
Chronic Granulomatous Disease
Sinusitis, Eczema, Chronic pulmonary obstruction, Otitis media, Inflammatory abnormality of the eye ORPHA:379
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:858
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Sinusitis, Choanal atresia, Micrognathia, Long nose, Malar prominenc... OMIM:251260
Cerebral Visual Impairment
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke, Infectious encephalitis ORPHA:447788
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge ORPHA:380
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Chronic pulmonary obstruction, Recurrent pneumonia... OMIM:616576
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Sensorineural hear... OMIM:109120
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Carious teeth, Mandibular ost... OMIM:259710
Igg4-Related Pachymeningitis
Increased CSF protein concentration, Sinusitis, Abnormal cerebrospinal fluid morphology, Dyspnea,... ORPHA:449427
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Spina bifida occulta, Low-set ears, Retrognathia OMIM:619227
Albers-Schönberg Osteopetrosis
Osteomyelitis, Carious teeth, Mandibular osteomyelitis, Osteoarthritis, Hydrocephalus, Arthritis,... ORPHA:53
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia OMIM:613193
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitin... ORPHA:29072
Coach Syndrome 2
Hypertension, Hydrocephalus, Apneic episodes in infancy OMIM:619111
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrocephalus, Anteverted nares OMIM:269920
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rhinitis, Respirator... OMIM:614874
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Malar flattening, Abnormal location of ears, Ventriculom... OMIM:218350
Pallister-Hall Syndrome
Natal tooth, Bifid epiglottis, Anteverted nares, Choanal atresia, Depressed nasal bridge, Posteri... OMIM:146510
Good Syndrome
Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, Cough ORPHA:169105
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Hydrocephalus OMIM:615599
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Hydranencephaly
Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morphology, Dilatation of th... ORPHA:2177
Pettigrew Syndrome
Mandibular prognathia, Ventriculomegaly, Prominent nose, Aqueductal stenosis, Hydrocephalus, Sens... OMIM:304340
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis, Hydrocephalus ORPHA:163596
Abeta Amyloidosis, Dutch Type
Stroke, Cerebral hemorrhage ORPHA:100006
Acys Amyloidosis
Stroke, Cerebral hemorrhage ORPHA:100008
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave, Tinnitus ORPHA:231625
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Colpocephaly, Lary... OMIM:619833
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Respiratory failure, Hydrocephalus, Respiratory insufficiency OMIM:276950
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Spinal dysraphism, Abnormal aorti... ORPHA:1926
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Hydrocephalus, Depressed nasal bridge ORPHA:2635
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Hydrocephalus, Depressed nasal ridge, Low-set ears, Short nose ORPHA:163966
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Micrognathia, Choanal stenosis, Severe sensorineural hearing impairment, Conductive hearing impai... OMIM:620186
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Low-set, posteriorly rotated ears, Choanal atresia, Portal hypertension, Cholangitis, Hepatitis, ... ORPHA:228426
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Respiratory insufficiency OMIM:613153
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Hec Syndrome
Communicating hydrocephalus, Respiratory insufficiency, Cardiomyopathy, Arrhythmia, Abnormality o... ORPHA:2119
Tetrasomy 5P
Respiratory distress, Anteverted nares, Posteriorly rotated ears, Micrognathia, Congestive heart ... ORPHA:3309
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy, Hydrocephalus OMIM:613155
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Cupped ear, ... OMIM:614846
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis OMIM:613493
Intellectual Developmental Disorder, Autosomal Dominant 65
Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose, Noncommunicating hydrocep... OMIM:619320
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Patent ductus arteriosus, Hydrocephalus, Sensorineural hearing impairment, Hype... OMIM:612938
Propionic Acidemia
Apnea, Eczema, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Pancreatitis OMIM:606054
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Dilated cardiomyopathy, Ventriculomegaly ORPHA:272
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Depressed nasal bridge, Hydrocephalus, Cerebral ischemia, Arterioveno... ORPHA:60040
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Depressed nasal ridge, Hydrocephalus, Low-set ears OMIM:300863
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Trisomy 17P
Wide nose, Prominent nose, Micrognathia, Patent ductus arteriosus, Hydrocephalus, Low-set ears, M... ORPHA:261290
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Prominent nasal bridge, Posteriorly rot... OMIM:619951
Neonatal Lupus Erythematosus
Abnormal bleeding, Prolonged QT interval, Maculopapular exanthema, Skin rash, Heart block, Hydroc... ORPHA:398124
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Recurrent sinusitis, C... ORPHA:217390
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Chr... ORPHA:83471
Amoebiasis Due To Free-Living Amoebae
Increased CSF protein concentration, Sinusitis, Pneumonia, Abnormal cerebrospinal fluid morpholog... ORPHA:68
Mirage Syndrome
Patent ductus arteriosus, Hydrocephalus, Intracranial hemorrhage, Aspiration pneumonia, Petechiae OMIM:617053
Cerebrofacioarticular Syndrome
Micrognathia, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla, Conductive hearing i... ORPHA:314679
Isotretinoin-Like Syndrome
Anteverted nares, Micrognathia, Patent ductus arteriosus, Hydrocephalus, Abnormal aortic arch mor... ORPHA:2306
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Underdeveloped nasal alae, Micrognathia, Congestive heart failure, ... ORPHA:2108
Metaphyseal Chondrodysplasia, Jansen Type
Choanal stenosis, Choanal atresia, Hearing impairment, Micrognathia OMIM:156400
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Micrognathia, Hydrocephalus, Tubulointerstitial nephritis, Low-set ears, ... ORPHA:459061
Gorlin Syndrome
Mandibular prognathia, Carious teeth, Hydrocephalus, Wide nasal bridge, Abnormality of the sense ... ORPHA:377
Hydrolethalus
Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Anencephaly, Abnormality of the s... ORPHA:2189
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Stroke-like episode, Bruis... OMIM:185070
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, Internal hemorrhage ORPHA:244242
Treacher-Collins Syndrome
Encephalocele, Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of th... ORPHA:861
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Wide nasal bridge, Ventriculomegaly OMIM:175700
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Choanal atresia ORPHA:92050
Crouzon Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Keratitis, Hydrocephalus, Conjunctivitis, Atres... OMIM:123500
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Vascular dilatation, Lateral ventricle dilatation OMIM:602200
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration, Hearing impairment OMIM:245200
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Truncus arteriosus, Hearing impairment, M... ORPHA:96170
Opitz-Kaveggia Syndrome
Choanal atresia, Micrognathia, Prominent nose, Hydrocephalus, Sensorineural hearing impairment, M... OMIM:305450
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Anosmia, D... OMIM:603457
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathi... OMIM:617822
Bresek Syndrome
Hydrocephalus, Protruding ear, Low-set ears, Convex nasal ridge, Hearing impairment ORPHA:85284
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Narrow nasal ridge, Bulbous nose, Hydrocephalus, Protruding ear, Mal... OMIM:612940
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus, Sensorineural hearing impairment ORPHA:99947
Meningioma
Cerebral hemorrhage, Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pul... ORPHA:2495
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Abnormal paranasal sinus morpholog... ORPHA:141099
Tempi Syndrome
Intracranial hemorrhage, Transudative pleural effusion, Hypoxemia, Telangiectasia ORPHA:284227
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Sensorineural hearing impairment, Single ... OMIM:615636
Achondroplasia
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Hypoxemia, Restrictive ventilatory defec... ORPHA:15
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Prominent scalp veins, Choanal atresia, Micrognathia, Macrotia, Sensorineu... OMIM:151050
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Myocarditis, Hydrocep... ORPHA:3452
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... ORPHA:340
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... OMIM:607594
Arachnoiditis
Hydrocephalus, Tinnitus, Hearing impairment ORPHA:137817
Cystic Fibrosis
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, A... OMIM:219700
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Cardiomyopathy, Tubulointerstitial nephritis, Pancre... OMIM:251000
Bannayan-Riley-Ruvalcaba Syndrome
Wide nose, Angina pectoris, Anteverted nares, Micrognathia, Telangiectasia, Intracranial hemorrha... ORPHA:109
Joubert Syndrome
Encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Episodic tachypnea, Hydrocephalus... ORPHA:475
Esophageal Atresia
Respiratory distress, Subglottic stenosis, Choanal atresia, Episodic respiratory distress, Chroni... ORPHA:1199
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Osteoglophonic Dysplasia
Respiratory distress, Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, A... OMIM:166250
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Hearing impai... OMIM:601499
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Respiratory insufficiency, Ventr... ORPHA:1860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Asthma, Recurrent pneumoni... OMIM:102700
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Inspiratory stridor OMIM:207950
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Patent ductus... OMIM:602398
Postaxial Acrofacial Dysostosis
Choanal atresia, Micrognathia, Cupped ear, Low-set ears, Conductive hearing impairment, Malar fla... OMIM:263750
Rhombencephalosynapsis
Microretrognathia, Low-set, posteriorly rotated ears, Anteverted nares, Hydrocephalus, Short nose... ORPHA:59315
3C Syndrome
Dandy-Walker malformation, Ventriculomegaly, Depressed nasal bridge, Micrognathia, Hydrocephalus,... ORPHA:7
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Sensori... ORPHA:261330
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Choanal atresia OMIM:113700
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Hydrocephalus, Wide nasal... OMIM:614886
Joubert Syndrome With Oculorenal Defect
Encephalocele, Low-set, posteriorly rotated ears, Apnea, Anteverted nares, Prominent nasal bridge... ORPHA:2318
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Reduced forced expiratory vo... OMIM:613686
Charge Syndrome
Aqueductal stenosis, Hypoplasia of the semicircular canal, Holoprosencephaly, Dandy-Walker malfor... ORPHA:138
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Choanal atresia, Sensorineural hearing impairment, Choanal steno... OMIM:607323
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Choanal atresia, Posteriorly rotated ears, Micrognathia, Abnormal pinna morphol... OMIM:616975
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Hydrocephalus ORPHA:2181
Joubert Syndrome With Renal Defect
Encephalocele, Low-set, posteriorly rotated ears, Apnea, Anteverted nares, Prominent nasal bridge... ORPHA:220497
Chromosome 6Pter-P24 Deletion Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Patent ductus arteriosus, Hydrocephalus, Sensor... OMIM:612582
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Posteriorly rotated ears, Bulbous nose, Hydrocephalus, Sensorineural... OMIM:615219
Holoprosencephaly 14
Ventriculomegaly, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hyd... OMIM:619895
Pontocerebellar Hypoplasia, Type 7
Apnea, Micrognathia, Broad nasal tip, Hydrocephalus, Wide nasal bridge, Low-set ears, Macrotia, V... OMIM:614969
Trisomy 18
Microretrognathia, Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Anencephaly,... ORPHA:3380
Trisomy 1Q
Microretrognathia, Wide nose, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Lo... ORPHA:261344
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Posteriorly rotated ears, Broad nasal tip, Hydrocephalus, Sensorineural he... OMIM:239300
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Choanal atresia, Micrognathia, Patent ductus arteriosus, Hypoplastic fr... OMIM:300712
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Prominent nasal bridge, Narrow nasal ridge, Hydrocephalus, Retrogn... OMIM:616914
Hogue-Janssen Syndrome 2
Hydrocephalus, Anteverted nares, Ventriculomegaly OMIM:616362
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Anteverted nares, Pneumonia, Depressed nasal bridge, Choanal atresia, ... OMIM:122470
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency OMIM:615368
Orofaciodigital Syndrome Type 1
Choanal atresia, Abnormal dental enamel morphology, Underdeveloped nasal alae, Micrognathia, Wide... ORPHA:2750
Superficial Siderosis
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Subarachnoid he... ORPHA:247245
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Micrognathia, Hydrocephalus, Colpocephaly, Low-set ears, Retrognathia, Ventriculomegaly OMIM:620156
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Micrognathia ORPHA:1064
Peho Syndrome
Anteverted nares, External ear malformation, Hydrocephalus, Malar flattening, Short nose, Macroti... ORPHA:2836
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Anteverted nares, Pa... OMIM:612863
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Depressed nasal bridge, Congestive heart failure, Hydrocepha... OMIM:616482
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Hydrocephalus, Hypoplasia of the zygom... ORPHA:1812
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Abnormality of the sphenoid sinus, Hydrocephalus ORPHA:91350
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydrocephalus, Right bundle branch b... OMIM:618590
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Hydrocephalus,... OMIM:310400
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Ventr... ORPHA:25
Desmosterolosis
Low-set, posteriorly rotated ears, Depressed nasal bridge, Abnormality of the nose, Micrognathia,... ORPHA:35107
Tetraamelia Syndrome 1
Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Low-set ears OMIM:273395
Tarp Syndrome
Anteverted nares, Posteriorly rotated ears, Micrognathia, Subdural hemorrhage, Wide nasal bridge,... OMIM:311900
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Monosomy 18Q
Mandibular prognathia, Left-to-right shunt, Depressed nasal bridge, Prominent nose, Left aortic a... ORPHA:1600
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Patent ductus arteriosus, Hydrocephalus, Inflammation of the large intestine, ... OMIM:614576
Mohr Syndrome
Depressed nasal bridge, Micrognathia, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip... OMIM:252100
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Muenke Syndrome
Malar flattening, Hydrocephalus, Sensorineural hearing impairment ORPHA:53271
Poikiloderma With Neutropenia
Depressed nasal bridge, Skin rash, Underdeveloped nasal alae, Micrognathia, Carious teeth, Recurr... OMIM:604173
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif... ORPHA:99827
Coccidioidomycosis
Respiratory distress, Morbilliform rash, Cough, Vasculitis, Vasospasm, Hypoglycorrhachia, Pneumon... ORPHA:228123
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Communicating hydrocephalus, Depressed nasal bridge, Anteverted nares, Pate... OMIM:618188
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Joubert Syndrome With Ocular Defect
Encephalocele, Low-set, posteriorly rotated ears, Apnea, Anteverted nares, Prominent nasal bridge... ORPHA:220493
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Depressed nasal bridge, Choanal atresia, Portal hypertension, Sensorineural hearing impairment, H... OMIM:610199
Aase-Smith Syndrome I
Hydrocephalus, Abnormal pinna morphology, Dandy-Walker malformation OMIM:147800
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Abnormal dental enamel morp... ORPHA:818
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Ventriculomegaly OMIM:225790
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Bulbous nose, Hydrocephalus, ... ORPHA:95699
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Abnormal antihelix morph... ORPHA:261112
Mycophenolate Mofetil Embryopathy
Micrognathia, Hydrocephalus, Coarctation of aorta, Anotia, Microtia, Bifid nose, Atresia of the e... ORPHA:268249
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Dyspnea, Abnormal lymphatic vessel morphology,... ORPHA:464329
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, R... ORPHA:3260
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Choanal atresia, Low-set ears OMIM:270420
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, ... OMIM:257300
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Dilated fourth ventricle, Ventriculomegaly, Low-set, posteriorly rotated ea... ORPHA:480880
Multiple Sulfatase Deficiency
Anteverted nares, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly, Hearing i... OMIM:272200
Cystic Fibrosis
Sinusitis, Nasal polyposis, Hearing impairment, Reduced forced expiratory volume in one second, A... ORPHA:586
Fanconi Anemia
Choanal atresia, Spina bifida, Micrognathia, External ear malformation, Patent ductus arteriosus,... ORPHA:84
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal pinna morphology, Hydrocephalus, Severe sensorineural hearing impairment, Nasofrontal en... OMIM:614195
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly... OMIM:605627
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Respiratory insuff... OMIM:232300
Lateral Meningocele Syndrome
Posteriorly rotated ears, Micrognathia, Abnormality of the middle ear ossicles, Patent ductus art... OMIM:130720
Proteus-Like Syndrome
Communicating hydrocephalus, Mandibular prognathia, Anteverted nares, Venous insufficiency, Hydro... ORPHA:2969
15Q Overgrowth Syndrome
Mandibular prognathia, Microretrognathia, Low-set, posteriorly rotated ears, Tricuspid regurgitat... ORPHA:314585
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Micrognathia, Osteoarthritis, Intracranial hemorrhage, Conductive hearing ... ORPHA:740
Distal Triplication 15Q
Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Cupped ear, Senso... ORPHA:314588
Holoprosencephaly 7
Hypoplasia of the premaxilla, Flat nasal alae, Alobar holoprosencephaly, Hydrocephalus, Absent na... OMIM:610828
Hypophosphatasia, Infantile
Intracranial hemorrhage, Apnea OMIM:241500
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage, Prominent nasal bridge, Low-set ears OMIM:618480
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Hearing impairment, Congestive heart failure, Asthma, Recurrent pneumo... OMIM:309900
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c... OMIM:615207
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Tricuspid regurgitation, Depressed nasal bridge, Pneumonia, Carious te... OMIM:253200
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... OMIM:610984
Laurin-Sandrow Syndrome
Underdeveloped nasal alae, Abnormality of the nose, Prominent nose, Hydrocephalus, Depressed nasa... ORPHA:2378
Meier-Gorlin Syndrome 7
Choanal atresia, Hearing impairment, Heart block, Sensorineural hearing impairment, Second degree... OMIM:617063
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Wide nasal bridge, Respirat... ORPHA:1865
Autosomal Dominant Popliteal Pterygium Syndrome
Fibrous syngnathia, Choanal atresia, Micrognathia ORPHA:1300
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Abnormal dental enamel morphology, Choanal atresia, Hydrocephalus, Facial ... ORPHA:2658
Limb Body Wall Complex
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Hydrocephalus, Myelomeningo... ORPHA:2369
Eec Syndrome
Abnormal dental enamel morphology, Choanal atresia, Keratitis, Carious teeth, External ear malfor... ORPHA:1896
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Hydrocephalus, Ventriculomegaly, Vascular ring OMIM:603387
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Posteriorly rotated ears, Partial anomalous pulmonary venous r... OMIM:301044
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Carious teeth,... ORPHA:811
Genitopalatocardiac Syndrome
Hydrocephalus, Wide nasal bridge, Low-set ears, Micrognathia ORPHA:2075
Achondroplasia
Respiratory distress, Depressed nasal bridge, Conductive hearing impairment, Hydrocephalus, Upper... OMIM:100800
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Ventriculomegaly ORPHA:370959
Spondyloepimetaphyseal Dysplasia, Krakow Type
Eczema, Allergic rhinitis, Asthma, Patent ductus arteriosus, Hydrocephalus, Bruising susceptibility OMIM:618162
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Mixed hearing impairment, Thoracic aortic aneurysm, Anteverted nares, Depre... ORPHA:536467
Multiple Sulfatase Deficiency
Depressed nasal bridge, Anteverted nares, Hydrocephalus, Sensorineural hearing impairment ORPHA:585
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Lacrimoauriculodentodigital Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Choanal atresia, Abnormal dental enamel morp... ORPHA:2363
Temple Syndrome
Hydrocephalus ORPHA:254516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Spina bifida, Micrognathia, Hydrocephalus, Myelomeningocele, H... ORPHA:2437
Orofaciodigital Syndrome Type 4
Wide nose, Microtia, third degree, Posteriorly rotated ears, Choanal atresia, Micrognathia, Depre... ORPHA:2753
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage, Wide nasal bridge, Long ear OMIM:619714
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Low-set ears, Micrognathia ORPHA:2268
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Dentinogenesis imperfecta, Micrognathia OMIM:112240
Hurler Syndrome
Anteverted nares, Angina pectoris, Depressed nasal bridge, Hydrocephalus, Wide nasal bridge, Card... ORPHA:93473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Sensorineural hearing impairment OMIM:615249
Hurler Syndrome
Aortic regurgitation, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Hydrocephalus, W... OMIM:607014
Triploidy
Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Menkes Disease
Intracranial hemorrhage OMIM:309400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Choanal atresia, Broad nasal tip, Hypoplasia of the maxilla, Car... OMIM:129900
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Micrognathia, Hydrocephalus, Microtia, Abnormality of the ... ORPHA:3301
Leukocyte Adhesion Deficiency
Abnormal bleeding, Sinusitis, Severe periodontitis, Lymphocytic interstitial pneumonia, Pneumonia... ORPHA:2968
Medulloblastoma
Cerebellar hemorrhage, Hydrocephalus, Bilateral sensorineural hearing impairment ORPHA:616
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Telangiectasia of the skin, Underdeveloped nasal a... OMIM:616007
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Depressed nasal bridge, Hydrocephalus, Patent ductus arteriosus, Wide nasal bridge, Low-set ears OMIM:104350
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Patent ductus arteriosus, Hydrocephalus, Hearing impairment ORPHA:77298
Fraser Syndrome 3
Wide nose, Micrognathia, Hydrocephalus, Low-set ears, Convex nasal ridge, Simple ear OMIM:617667
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Carious teeth, Hydrocephalus, Calvarial osteosclerosis, Hearing impairment OMIM:259700
Methylcobalamin Deficiency Type Cble
Hypertension, Hydrocephalus, Ventriculomegaly, Hearing impairment ORPHA:2169
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Hydrocephalus, Protruding ear, Mitral regurgitation, Abnormality of the ... ORPHA:363700
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Prostatitis, Urinary bladder i... ORPHA:449395
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Hydrocephal... OMIM:175780
H Syndrome
Psoriasiform dermatitis, Recurrent pharyngitis, Hydrocephalus, Abnormal cardiovascular system phy... ORPHA:168569
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Encephalocele, Portal hypertension, Hydrocephalus, Arteriovenous mal... ORPHA:974
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hydrocephalus, Bulbous nose, Craniofacial osteosclerosis, Dandy-Walker malformation, Ventriculome... OMIM:618476
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrocephalus, Dilated cardiomyopathy, Subdural hemorrh... ORPHA:79282
Otopalatodigital Syndrome Type 2
Encephalocele, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Hydrocephalus, Hy... ORPHA:90652
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:611134
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventriculomegaly OMIM:615630
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Apnea, Anteverted nares, Prominent nasal bridge, Portal hypertension, Hy... ORPHA:1454
Endocrine-Cerebroosteodysplasia
Natal tooth, Micrognathia, Laryngeal hypoplasia, Hydrocephalus, Wide nasal bridge, Depressed nasa... OMIM:612651
Joubert Syndrome 2
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Depressed nasal bridge, Episodic ... OMIM:608091
Congenital Sialidosis Type 2
Abnormal EKG, Hydrocephalus, Telangiectasia, Low-set ears, Cherry red spot of the macula, Petechi... ORPHA:93400
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Bulbous nose, H... OMIM:115150
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Depressed nasal bridge, Hydrocephalus, Sensorineural hearing impairment, Hematochezia, Lateral ve... OMIM:619575
Hemangioblastoma
Hydrocephalus ORPHA:252054
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Apnea, Laryngeal web, Posteriorly rotated ears, Microgna... OMIM:300373
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Griscelli Syndrome
Encephalocele, Hydrocephalus, Hepatitis ORPHA:381
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal bleeding, Abnormal paranasal sinus morphology, Intestinal lymphangiectasia OMIM:207731
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad... OMIM:101800
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Vascular dilatation OMIM:219730
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Keratitis, Orchitis, Thyroiditis, Abnormality of the sphenoid sinus, Pros... ORPHA:449563
Developmental And Epileptic Encephalopathy 49
Dandy-Walker malformation, Prominent nose, Hydrocephalus, Macrotia, Ventriculomegaly OMIM:617281
Oculocerebrocutaneous Syndrome
External ear malformation, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Hearing im... ORPHA:1647
Bilateral Perisylvian Polymicrogyria
Apnea, Choanal atresia, Micrognathia, Aspiration, Hearing impairment ORPHA:98889
47,Xyy Syndrome
Malar flattening, Asthma, Hydrocephalus, Low-set ears ORPHA:8
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Bronchiectasis OMIM:208900
Treacher Collins Syndrome 1
Choanal atresia, Micrognathia, Hypoplasia of the pharynx, Microtia, Atresia of the external audit... OMIM:154500
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Laryngeal atresia, Persistent left superior vena cava, Transposition of the great ... OMIM:314390
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Laryngeal hy... OMIM:154400
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure... OMIM:261740
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Laryngeal web, ... ORPHA:137675
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Hydrocephalus, Coarctation of aorta, Low-set ears, Overfolded helix, Ve... OMIM:300514
Thakker-Donnai Syndrome
Communicating hydrocephalus, Anteverted nares, Posteriorly rotated ears, Bulbous nose, Macrotia, ... ORPHA:1780
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Emphysema, Intracranial hemorrhage, Hypertension, Mitral regurgitation,... ORPHA:363618
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Membranoproliferative glomerulonephritis, Underdeveloped nasal alae, Micrognathia, Sup... OMIM:619525
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Hearing impairment, Broad nasal tip, Micrognathia, Patent duct... ORPHA:96121
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Micrognathia, Wide nasal bridge, Respiratory insufficiency, Normal press... OMIM:620351
Stromme Syndrome
Prominent nasal bridge, Micrognathia, Hydrocephalus, Wide nasal bridge, Short columella, Low-set ... OMIM:243605
Sturge-Weber Syndrome
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... ORPHA:3205
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Micrognathia ORPHA:238769
Cockayne Syndrome Type 3
Narrow nose, Carious teeth, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root ... ORPHA:90324
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Hydrocephalus, Holopros... ORPHA:2356
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Narrow nasal r... OMIM:619512
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Bulbous nose, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Stroke, Apnea, Ventriculomegaly ORPHA:395
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly, Micrognathia OMIM:617866
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Depre... OMIM:604292
Chromosome 17P13.1 Deletion Syndrome
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Spina bifida, Posteriorly rotat... OMIM:613776
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Asthma, Hydrocephalus, Dilated third ventricle, Ventriculomegaly, Hearing impairment ORPHA:500055
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Respiratory insufficiency, Transposition of... OMIM:253800
Witteveen-Kolk Syndrome
Uplifted earlobe, Protruding ear, Intracranial hemorrhage, Thickened helices, Hyperplasia of the ... OMIM:613406
Cornelia De Lange Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted ... ORPHA:199
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Anteverted nares, Apnea, Posteriorly rotated ears, Micrognathia, Hyp... ORPHA:2462
Mucopolysaccharidosis, Type Vii
Hearing impairment, Hydrocephalus, Recurrent upper respiratory tract infections, Sensorineural he... OMIM:253220
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... ORPHA:505248
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Adenoiditis, Abnormality ... ORPHA:581
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Laryngeal atresia, Choanal stenosis, Con... OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus, Ventriculomegaly OMIM:616538
Shprintzen-Goldberg Craniosynostosis Syndrome
Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Hypoplasia o... OMIM:182212
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Low-set, posteriorly rotated ears, Bifid epiglottis, Anteverted n... ORPHA:672
Trisomy 8P
Dandy-Walker malformation, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hy... ORPHA:264450
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Spina bifida, Micrognathia, Hydrocephalus, Microtia, Hydranencephaly ORPHA:2839
Menkes Disease
Gastrointestinal hemorrhage, Osteomyelitis, Micrognathia, Venous insufficiency, Arterial stenosis... ORPHA:565
Cole-Carpenter Syndrome 2
Microretrognathia, Hydrocephalus, Dentinogenesis imperfecta OMIM:616294
Restrictive Dermopathy 1
Natal tooth, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, Micrognathia, Patent du... OMIM:275210
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Hydrocephalus, Cough, Pleur... ORPHA:1546
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Micrognathia, Absent frontal sinuses, Patent ductus arteriosus, Hydr... OMIM:102500
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Hydrocephalus, A... OMIM:610829
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Abnormal pinna morphology, Br... OMIM:135900
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Malar flattening, Hydrocephalus, Micrognathia OMIM:224400
Ciliary Dyskinesia, Primary, 20
Productive cough, Pulmonary artery stenosis, Recurrent pneumonia, Double outlet right ventricle, ... OMIM:615067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Hydrocephalus, Hypop... ORPHA:1340
1Q21.1 Microdeletion Syndrome
Bulbous nose, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge, Sensorineural hearing i... ORPHA:250989
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Hydrocephalus OMIM:187600
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Hydrocephalus, Skin rash, Hearing impairment ORPHA:220295
Walker-Warburg Syndrome
Posteriorly rotated ears, Hydrocephalus, Protruding ear, Low-set ears, Dandy-Walker malformation,... ORPHA:899
Mend Syndrome
Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Bulbous nose, ... OMIM:300960
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Microtia, Micrognathia ORPHA:1834
Loeys-Dietz Syndrome 1
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognathia, Descending thoraci... OMIM:609192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Hydrocephalus, Microtia, Low-set ears, Retrognathia, Ve... OMIM:614643
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Heart block, Hydrocephalus, Cardiomyopathy, Tubulointerstitial nep... ORPHA:228308
Vater/Vacterl Association
Laryngeal stenosis, Abnormal nasopharynx morphology, Occipital encephalocele, Choanal atresia, Sp... OMIM:192350
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Abnormal respiratory system phy... ORPHA:90062
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Acne ORPHA:90795
Charge Syndrome
Mixed hearing impairment, Overriding aorta, Choanal atresia, Micrognathia, Aplasia of the semicir... OMIM:214800
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Apnea, Pulmonary artery stenosis, Hydrocephalus, Chronic rhinitis, Oti... ORPHA:667
Carnitine Palmitoyltransferase Ii Deficiency
Neonatal respiratory distress, Hydrocephalus, Cardiomyopathy, Tubulointerstitial nephritis, Arrhy... ORPHA:157
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Micrognathia, Patent ductus ... ORPHA:1662
Hajdu-Cheney Syndrome
Wide nose, Mitral stenosis, Anteverted nares, Micrognathia, Absent frontal sinuses, Patent ductus... ORPHA:955
Townes-Brocks Syndrome 1
Overfolding of the superior helices, Choanal atresia, Hydrocephalus, Macrotia, Sensorineural hear... OMIM:107480
Aymé-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Posteriorly rotated ears, Patent ductus arteriosus, Hydroce... ORPHA:1272
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Abnormal dental enamel morphology, Choanal atresia, Eczema, Keratitis, Cheilitis, U... ORPHA:2273
Orofaciodigital Syndrome I
Microretrognathia, Underdeveloped nasal alae, Carious teeth, Supernumerary tooth, Hydrocephalus, ... OMIM:311200
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Wide nose, Tricuspid regurgitation, Micrognathia, Patent ductus arteriosus... ORPHA:261337
Dubowitz Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Depressed nasal bridge, Eczema, Mic... ORPHA:235
Iniencephaly
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Retrognathia ORPHA:2736
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Pseudotrisomy 13 Syndrome
Encephalocele, Posteriorly rotated ears, Hydrocephalus, Coarctation of aorta, Holoprosencephaly, ... OMIM:264480
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Micrognathia, Hyd... ORPHA:2166
Mend Syndrome
Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia, Hydrocephalus, Low-set... ORPHA:401973
Vacterl With Hydrocephalus
Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Anotia, R... ORPHA:3412
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Depressed nasal bridge, Hydrocephalus, Anencephaly, Low-set ears, Occipital meningocele, Ventricu... OMIM:616546
Loeys-Dietz Syndrome 2
Micrognathia, Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Eosinophilic infiltr... OMIM:610168
Jacobsen Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Hydrocephalus, Holoprosencephaly, Low-set... OMIM:147791
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Microretrognathia, Depressed nasal bridge, Micrognathia, Hydrocephalus, Aortic root aneurysm, Mic... OMIM:245600
Alexander Disease
Sudden cardiac death, Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Hypertension... ORPHA:58
Fanconi Anemia, Complementation Group L
Micrognathia, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Anotia, Microtia, Low-set ears OMIM:614083
Monosomy 9Q22.3
Delayed eruption of teeth, Hydrocephalus, Thickened ears, Low-set ears, Short nose, Ventriculomegaly ORPHA:77301
Short-Rib Thoracic Dysplasia 12
Natal tooth, Posteriorly rotated ears, Abnormal pinna morphology, Patent ductus arteriosus, Hydro... OMIM:269860
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, Emphysema, Micr... OMIM:619472
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Wide nose, Tricuspid regurgitation, Abnormal dental enamel morphology, Micr... ORPHA:2556
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus, Hearing impairment OMIM:619377
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Microg... ORPHA:2050
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Eosin... OMIM:613795
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Mandibular prognathia, Communicating hydrocephalus, Posteriorly rotated ears, Prominent nasal bri... OMIM:617011
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Dyspnea, Hydrocephalus, Pneumothorax, Restrictive ventilatory defect... ORPHA:538
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Epididymitis, Bronchiectasis, Prostatitis, ... OMIM:300755
Nelson Syndrome
Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid sinus ORPHA:199244
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Aqueductal stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Hyd... OMIM:306955
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Hearing impairment ORPHA:2720
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mandibular prognathia, Communicating hydrocephalus, Mixed hearing impairmen... ORPHA:309282
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Depressed nasal bridge, Apnea, Spina bifida,... OMIM:114290
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Alobar Holoprosencephaly
Central apnea, Proboscis, Hydrocephalus, Sensorineural hearing impairment, Depressed nasal ridge,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Proboscis, Hydrocephalus, Sensorineural hearing impairment, Depressed nasal ridge,... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Proboscis, Hydrocephalus, Sensorineural hearing impairment, Depressed nasal ridge,... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Proboscis, Hydrocephalus, Sensorineural hearing impairment, Depressed nasal ridge,... ORPHA:220386
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Micrognathia, Meningoencephalocele, Hydrocephalus, Microtia, Atresia of ... OMIM:236670
Dextrocardia
Abnormal EKG, Hydrocephalus, T-wave inversion, Congenital malformation of the great arteries ORPHA:1666
Cousin Syndrome
Posteriorly rotated ears, Micrognathia, Hydrocephalus, Low-set ears, Hydranencephaly, Microtia, f... OMIM:260660
Cockayne Syndrome A
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Delayed eruption of primary teeth... OMIM:216400
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Micrognathia, Sensorineural hearing impairment, Lateral ventricle dilatation, Normal pressure hyd... ORPHA:300570
Costello Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Hydrocephalus, ... OMIM:218040
Thoracoabdominal Syndrome
Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great arteries OMIM:313850
Hypoplasminogenemia
Cervicitis, Periodontitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Neurooculorenal Syndrome
Subglottic stenosis, Mixed hearing impairment, Micrognathia, Aqueductal stenosis, Hydrocephalus, ... OMIM:620305
Craniopharyngioma
Abnormal nasal bone morphology, Myocardial infarction, Hydrocephalus, Cerebral ischemia, Hearing ... ORPHA:54595
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Wide nose, Conductive hearing impairment, Sensorineura... ORPHA:580
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Meckel Syndrome, Type 1
Dilated fourth ventricle, Natal tooth, Ventriculomegaly, Occipital encephalocele, Micrognathia, P... OMIM:249000
Fontaine Progeroid Syndrome
Mandibular prognathia, Prominent superficial veins, Tricuspid regurgitation, Depressed nasal brid... OMIM:612289
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Tetralogy of Fallot, Anencephaly ORPHA:1335
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Dandy-Walker malformation, Peripheral pulmonary artery stenosis OMIM:613001
Knobloch Syndrome
Occipital encephalocele, Patent ductus arteriosus, Depressed nasal bridge, Hydrocephalus ORPHA:1571
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Wide nose, Depressed nasal bridge, Choanal atresia, Hypertension, Choanal stenosis, Laryngomalaci... OMIM:201750
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Osteomyelitis, Anteverted nares, Hearing impairment, Congestive heart failu... OMIM:619475
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Epistaxis, Eczema, Hematemesis, Recurrent upper respiratory tract infect... OMIM:301000
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Hydrocephalus, Ventriculomegaly, Micrognathia OMIM:259720
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Histiocytoid cardi... OMIM:309801
Smith-Lemli-Opitz Syndrome
Microretrognathia, Anteverted nares, Depressed nasal bridge, Eczema, Micrognathia, Posteriorly ro... OMIM:270400
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Anteverted nares, Prominent nasal bridge, Depressed nasal br... OMIM:619325
Gaucher Disease, Type Iiic
Hydrocephalus, Mitral stenosis, Calcification of the aorta OMIM:231005
Kabuki Syndrome
Hydrocephalus, Sensorineural hearing impairment, Protruding ear, Coarctation of aorta, Short colu... ORPHA:2322
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media OMIM:601495
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Communicating hydrocephalus, Anteverted nares, Prominent nasal bridge, Epi... OMIM:619841
Gaucher Disease
Abnormal bleeding, Osteomyelitis, Osteoarthritis, Hydrocephalus, Hepatitis, Respiratory insuffici... ORPHA:355
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Anteverted nares, Ventriculomegaly ORPHA:457284
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Depressed nasal bridge, Hypoplasia of the premaxilla, Microgna... ORPHA:1106
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Kabuki Syndrome 1
Posteriorly rotated ears, Micrognathia, Hydrocephalus, Wide nasal bridge, Depressed nasal tip, Co... OMIM:147920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Hydrocephalus, Sensorineural hearing impairment, Calcification ... ORPHA:2072
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Depressed nasal ri... ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Delayed e... OMIM:133540
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Depressed nasal bridge, Anteverted... OMIM:264090
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Hydrocephalus, Wide nasal bridge, Spina bifida OMIM:109400
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Pericarditis, Myositis, Abnormal dental enamel morphology, ... ORPHA:3310
Functioning Gonadotropic Adenoma
Hydrocephalus ORPHA:91348
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy, Sensorineural hearing impairment OMIM:616084
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Acute Transverse Myelitis
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Hypertension, Hypoglycorrhachi... ORPHA:139417
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Hearing impairment, Stroke-like episode ORPHA:86309
Pseudoaminopterin Syndrome
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Hydrocephalus, Mild cond... ORPHA:221120
Yunis-Varon Syndrome
Narrow nasal base, Anteverted nares, Abnormal pinna morphology, Micrognathia, Abnormality of dent... ORPHA:3472
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Mandibular prognathia, Communicating hydrocephalus, Low-set, posteriorly rotated ears, Prominent ... ORPHA:457359
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Hydrocephalus, Low-set ears, Bruising susceptibility, Hearing impairment OMIM:227646
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Depressed nasal bridge, Posteriorly rotated ears, Asymmetry of the ... OMIM:607872
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Macrotia, Low-set ears OMIM:277400
Peters Plus Syndrome
Low-set, posteriorly rotated ears, Microtia, second degree, Depressed nasal bridge, Anteverted na... ORPHA:709
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Anteverted nares, Prominent nose, Micrognathia, Hydrocephalus, Respiratory insufficiency, Coarcta... OMIM:210710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Dandy-Walker ma... OMIM:615287
Marden-Walker Syndrome
Posteriorly rotated ears, Micrognathia, Hydrocephalus, Low-set ears, Retrognathia ORPHA:2461
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis OMIM:162200
Focal Dermal Hypoplasia
Narrow nasal bridge, Delayed eruption of teeth, Mixed hearing impairment, Cleft ala nasi, Broad n... OMIM:305600
Baller-Gerold Syndrome
Mixed hearing impairment, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Underde... OMIM:218600
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Macrotia ORPHA:168577
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Hydrocephalus, Malar flattening, Short nasal bridge, Ventriculomegaly OMIM:253280
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Laryngeal hypoplasia, Micrognathia, Anencephaly, Bifid nose, Midline d... OMIM:236680
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, P... OMIM:312870
Otopalatodigital Syndrome, Type Ii
Depressed nasal bridge, Posteriorly rotated ears, Spina bifida, Micrognathia, Hydrocephalus, Resp... OMIM:304120
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Tinnitus, Sensorineural hearing impairment ORPHA:637
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Micrognathia, Hydrocephalus, Sensorineural hearing impairment, Wide na... OMIM:194190
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... OMIM:619534
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Hypertension, Pulmonary lymphangiomyomatosi... ORPHA:805
Fetal Akinesia Deformation Sequence 1
Posteriorly rotated ears, Micrognathia, Hydrocephalus, Depressed nasal tip, Low-set ears OMIM:208150
Pmm2-Cdg
Respiratory distress, Mandibular prognathia, Pericarditis, Angina pectoris, Prominent nasal bridg... ORPHA:79318
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Short nose, Convex nasal ridge OMIM:619321
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Natal tooth, Anteverted nares, Wide nasal ridge, Recurrent skin infections... ORPHA:3455
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Hydro... OMIM:164210
Roberts-Sc Phocomelia Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Underdeveloped nasal alae, Pat... OMIM:268300
Peters-Plus Syndrome
Microtia, second degree, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Paten... OMIM:261540
Neurofibromatosis Type 1
Hypertension, Hydrocephalus, Arterial stenosis, Hearing impairment ORPHA:636
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Conductive hearing impairment, Hydrocephalus, Macrotia, Calcification of the auricular cartilage ORPHA:3042
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele ORPHA:573278
Oeis Complex
Hydrocephalus, Myelomeningocele OMIM:258040
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322

Histopathology

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

There is no histopathology data for Kif27

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kif27.

No publications found that use IMPC mice or data for Kif27.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Kif27tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kif27tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter