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Gene: Zmynd10 MGI:2387863

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Gene Summary

Name:
zinc finger, MYND domain containing 10
Synonyms:
Blu

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zmynd10 mutations

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

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

The table below shows human diseases associated to Zmynd10 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... OMIM:615444
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244

The table below shows human diseases predicted to be associated to Zmynd10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... OMIM:613807
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Situs inversus to... OMIM:612650
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic bronchiti... OMIM:612649
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:613808
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Situs inversus t... OMIM:614679
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronc... OMIM:612444
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Absent inner dynein arms, Situs inversus totalis, Absent outer dyn... OMIM:614874
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Absent o... OMIM:615500
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot... OMIM:613193
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Chronic sinusitis, Recurrent sinusitis, Chronic otitis media, Ciliary dys... OMIM:612518
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Situs inversus totalis, Ab... OMIM:616037
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro... OMIM:614017
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... OMIM:215520
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Abs... OMIM:244400
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent... OMIM:614935
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ... OMIM:615444
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... OMIM:267450
Ciliary Dyskinesia, Primary, 50
Absent inner dynein arms, Coiled sperm flagella, Chronic bronchitis, Short sperm flagella, Chroni... OMIM:620356
Bowen-Conradi Syndrome
Short stature, Cryptorchidism, Abnormal lung lobation, Severe postnatal growth retardation, Sever... ORPHA:1270
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Decreased nasal nitric o... OMIM:618063
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... OMIM:618300
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Situs inversu... OMIM:606763
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Microcephaly 19, Primary, Autosomal Recessive
Extra-axial cerebrospinal fluid accumulation, Failure to thrive in infancy, Ventriculomegaly, Dec... OMIM:617800
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Pneumonia, Ventriculomegaly ORPHA:85179
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Microlissencephaly
Pneumonia, Ventriculomegaly ORPHA:1083
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia, Abnormal respiratory motile cilium morphology OMIM:225050
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... OMIM:615294
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent upper respiratory trac... OMIM:300209
Systemic Capillary Leak Syndrome
Pericarditis, Pulmonary edema, Myocarditis, Cardiorespiratory arrest, Weight loss, Pedal edema, C... ORPHA:188
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Productive cough, Situs inversus totalis... OMIM:615067
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu... OMIM:615451
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Postnatal growth retardation, Dyspnea, Pulmonary ven... ORPHA:75249
Idiopathic Achalasia
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia ORPHA:930
Wild Type Attr Amyloidosis
Abnormal pulmonary interstitial morphology, Pedal edema, Weight loss, Pleural effusion, Pulmonary... ORPHA:330001
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... OMIM:618433
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:615504
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Dyspnea, Hemothorax, Pulmonar... ORPHA:199241
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Immunodeficiency 104
Eczema, Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent in... OMIM:608971
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:608647
Idiopathic Bronchiectasis
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Respiratory tract infection, Abnormal re... ORPHA:60033
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus, Rhizomelia OMIM:166990
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:608644
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef... ORPHA:542323
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restri... OMIM:611884
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:615481
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Situs inversus totalis, Recurre... OMIM:617092
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Decreased nasal nitric... OMIM:620197
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Hydrocephalus OMIM:266100
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res... OMIM:619057
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Immunodeficiency 48
Recurrent respiratory infections, Eczematoid dermatitis, Failure to thrive, Pneumonia OMIM:269840
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Decrease... OMIM:300991
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum, Ventriculomegaly ORPHA:171703
Masa Syndrome
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:303350
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly, Edema OMIM:616570
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... OMIM:279000
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pericardial effusion, Hydrocephalus, Anasarca, Peripheral edema, Ple... OMIM:261740
Masa Syndrome
Agenesis of corpus callosum, Short stature, Ventriculomegaly ORPHA:2466
Mogs-Cdg
Respiratory distress, Hypoventilation, Generalized edema, Apnea, Edema, Polyhydramnios, Hydrocele... ORPHA:79330
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Periodontitis ORPHA:1008
Renpenning Syndrome
Severe short stature, Cachexia, Growth delay, Heterotaxy, Decreased testicular size ORPHA:3242
Mitochondrial Complex I Deficiency, Nuclear Type 31
Recurrent respiratory infections, Failure to thrive, Ventriculomegaly OMIM:618251
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Amyloidosis, Hereditary, Transthyretin-Related
Increased CSF protein concentration, Pulmonary edema OMIM:105210
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive, Skin rash ORPHA:26
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Acalvaria
Hydrocephalus, Abnormal lung lobation, Holoprosencephaly, Spina bifida ORPHA:945
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema ORPHA:64739
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Japanese Encephalitis
Respiratory distress, Irregular respiration, Increased CSF protein concentration, CSF pleocytosis... ORPHA:79139
Asbestos Intoxication
Reduced vital capacity, Edema, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive ... ORPHA:2302
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive ORPHA:250994
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus, Short stature, Pulmonary hypoplasia OMIM:618174
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Polyhydramnios, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Pulmonary hypoplasia, Neonat... OMIM:314390
Histiocytoid Cardiomyopathy
Hydrocephalus, Tachypnea, Cough, Failure to thrive, Agenesis of corpus callosum, Pulmonary edema ORPHA:137675
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retardation, Ventriculomegaly ORPHA:1495
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... ORPHA:79126
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema OMIM:115197
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... OMIM:620321
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Thanatophoric Dysplasia Type 2
Encephalocele, Short stature, Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Respi... ORPHA:93274
Absence Of The Pulmonary Artery
Orthopnea, Recurrent respiratory infections, Dyspnea, Nonproductive cough, Recurrent pneumonia, B... ORPHA:980
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory insufficiency, Respiratory failure, Increased CSF protein concentratio... OMIM:611722
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Failure to thrive secondary to recurrent... OMIM:601457
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum, Ventriculomegaly OMIM:619501
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... OMIM:604571
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Short stature, Eczema, Pneumonia, Asthma, Failure to thrive OMIM:607271
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Ascites, Peripheral edema, Pulmonary edema ORPHA:57777
Microcephaly 17, Primary, Autosomal Recessive
Agenesis of corpus callosum, Failure to thrive, Short stature, Ventriculomegaly OMIM:617090
Catel-Manzke Syndrome
Chronic otitis media, Failure to thrive, Short stature, Ventriculomegaly ORPHA:1388
Ogden Syndrome
Ventriculomegaly, Apnea, Eczema, Short stature, Lymphedema, Postnatal growth retardation, Cryptor... OMIM:300855
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Apnea, Bronchiectasis, Respiratory insufficiency, Increased CSF lactat... OMIM:618253
Bonnemann-Meinecke-Reich Syndrome
Short stature, Ventriculomegaly ORPHA:1261
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Short stature, Ventriculomegaly OMIM:608716
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum OMIM:619302
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... ORPHA:2902
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Congenital Toxoplasmosis
Failure to thrive in infancy, Hydrocephalus, Intrauterine growth retardation, Ascites, Ventriculo... ORPHA:858
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Hellp Syndrome
Pleural effusion, Increased body weight, Generalized edema, Pulmonary edema ORPHA:244242
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Acute tubulointerstitial... ORPHA:340
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Thanatophoric Dysplasia
Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Respiratory insufficiency, Dispropo... ORPHA:2655
Macrocephaly, Acquired, With Impaired Intellectual Development
Agenesis of corpus callosum, Unilateral cryptorchidism, Ventriculomegaly OMIM:618286
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati... ORPHA:70588
Gómez-López-Hernández Syndrome
Hydrocephalus, Short stature ORPHA:1532
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Short stature, Slender build, Ventriculomegaly OMIM:300699
Ethylene Glycol Poisoning
Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral ed... ORPHA:31826
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker... OMIM:617967
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Small for gestational age, Partial agenesis of the corpus callosum... ORPHA:79243
Congenital Disorder Of Glycosylation, Type Iic
Short stature, Pneumonia, Recurrent otitis media, Periodontitis, Bronchiolitis OMIM:266265
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia OMIM:617638
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Intrauter... OMIM:616034
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Glomerulonephritis, Diffuse alveolar hemorrhage, Wheezing,... ORPHA:90068
Double Outlet Right Ventricle
Short stature, Tachypnea, Heterotaxy, Pulmonary artery atresia, Failure to thrive ORPHA:3426
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Respiratory insufficiency, CSF lymphocytic pleiocytosis, Intrauterine growth retar... OMIM:610333
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia, Ventriculomegaly OMIM:616531
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Idiopathic Pulmonary Fibrosis
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f... ORPHA:2032
Biemond Syndrome Ii
Hydrocephalus, Short stature OMIM:210350
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... ORPHA:397596
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism, Ventriculomegaly ORPHA:1568
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Pericarditis, Ost... ORPHA:449280
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Ventriculomegaly ORPHA:1980
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruction, A... ORPHA:1163
Biemond Syndrome Type 2
Hydrocephalus, Short stature, Obesity, Delayed puberty ORPHA:141333
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Recurrent respiratory infections, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly OMIM:618603
Temple Syndrome
Small for gestational age, Short stature, Postnatal growth retardation, Cryptorchidism, Hydroceph... ORPHA:254516
Diencephalic Syndrome
Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Severe short stature, Ventriculomegaly, Intrauterine growth ret... ORPHA:2643
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... OMIM:619611
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Short stature, Recurrent skin infections, Postnatal growth reta... OMIM:620210
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased CSF lactate, Abnormal CSF pyruvate family amino acid concentration, Failure to thrive, ... ORPHA:255182
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:612387
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Short stature, Recurrent otitis media, Failure to thrive, Agenesis of corpus callosum, Ventriculo... OMIM:615286
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Situs inversus totalis, Hydrocephalus, Meningocele, Anencephaly, Sp... ORPHA:1908
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis, Failure to thrive OMIM:300400
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Severe short stature ORPHA:2635
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Epilepsy, Progressive Myoclonic, 9
Agenesis of corpus callosum, Ventriculomegaly OMIM:616540
Temple Syndrome
Small for gestational age, Short stature, Overweight, Cryptorchidism, Hydrocephalus, Obesity, Tru... OMIM:616222
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Short stature, Obesity ORPHA:2183
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Anomalous pulmonary venous return, Heterotaxy, Bacterial endoca... ORPHA:1330
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... OMIM:607594
Kleeblattschaedel
Hydrocephalus OMIM:148800
Fried Syndrome
Hydrocephalus ORPHA:85335
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Chronic otitis media, Fa... OMIM:609757
Intellectual Developmental Disorder, Autosomal Recessive 46
Growth delay, Short stature, Ventriculomegaly, Large for gestational age OMIM:616116
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Immunodeficiency 13
Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiolitis... OMIM:615518
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... ORPHA:3392
Trisomy 5P
Short stature, Obesity, Ventriculomegaly ORPHA:1742
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... ORPHA:2357
Pallister-Hall-Like Syndrome
Occipital encephalocele, Hydrocephalus, Short stature, Pulmonary hypoplasia OMIM:241800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Agenesis of corpus callosum, Dandy-Wa... OMIM:613153
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Infantile Sialic Acid Storage Disease
Ascites, Hydrocephalus, Failure to thrive, Hydrops fetalis OMIM:269920
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Recurrent lower respiratory tra... OMIM:620233
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Intellectual Developmental Disorder, Autosomal Recessive 41
Recurrent pneumonia, Ventriculomegaly OMIM:615637
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly OMIM:304100
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Short stature, Ventriculomegaly ORPHA:2515
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Central Precocious Puberty In Male
Hydrocephalus, Acne, Abnormality of the testis size ORPHA:649929
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis OMIM:614069
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia, Polyhydramnios OMIM:619971
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Recurrent sinu... OMIM:609029
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... OMIM:614700
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Recurrent pneumonia, Dehydration, Failure to thrive, A... OMIM:214150
Multiple Mitochondrial Dysfunctions Syndrome 3
Polyhydramnios, Respiratory insufficiency, Increased CSF lactate, Respiratory failure, Increased ... OMIM:615330
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Short stature, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive OMIM:242860
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature ORPHA:1516
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Weight loss, Salmonella... OMIM:209950
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Increased CSF lactate, Apneic episodes precipitated by illness, fatigu... OMIM:312170
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Polyhydramnios, Hydrocephalus, Disproportionate short-limb short s... OMIM:187600
Mulibrey Nanism
Short stature, Hydrops fetalis, Growth delay, Intrauterine growth retardation, Recurrent lower re... OMIM:253250
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Episodic tachypnea, Hydrocephalus, Apneic episodes in infancy, Dandy-Walker mal... ORPHA:163961
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Bronchitis, Cerebrospinal fluid rhinorrhoea, Cholecystitis, Psori... ORPHA:183675
Tetraamelia-Multiple Malformations Syndrome
Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Aplasia/Hypoplasia of the ... ORPHA:3301
Alexander Disease Type I
Hydrocephalus, Failure to thrive, Cachexia ORPHA:363717
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Increased CSF protein concentration, Pneumonia, Cerebral edema OMIM:608033
Thanatophoric Dysplasia Type 1
Polyhydramnios, Hydrocephalus, Increased nuchal translucency, Respiratory insufficiency, Aplasia/... ORPHA:1860
Scorpion Envenomation
Acute pancreatitis, Edema, Myocarditis, Tachypnea, Abnormal nasal mucus secretion, Pulmonary edema ORPHA:466677
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Emanuel Syndrome
Recurrent respiratory infections, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Growth delay, ... ORPHA:96170
Dextrocardia
Situs inversus totalis, Hydrocephalus, Abnormal lung lobation, Abnormality of abdominal situs, Ab... ORPHA:1666
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Ventriculomegaly ORPHA:319199
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... ORPHA:3384
Liver Disease, Severe Congenital
Chronic gastritis, Pneumonia, Eczema, Peritonitis, Hydrocele testis, Ascites, Cough, Recurrent ot... OMIM:619991
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive OMIM:226990
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Partial agenesis of the corpus callosum, Tachypnea, Increased CSF lact... OMIM:220111
Whipple Disease
Myositis, Pericarditis, Cachexia, Myocarditis, Hydrocephalus, Respiratory insufficiency, Uveitis,... ORPHA:3452
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Ventriculomegaly, Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Ventriculomegaly OMIM:613328
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... ORPHA:436159
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Polyhydramnios, Obesity, Ventriculomegaly ORPHA:521390
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Increased CSF protein concentration, Respiratory tract infection, Restrictive ventilatory defect,... OMIM:218000
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Congenital Muscular Dystrophy, Fukuyama Type
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly ORPHA:272
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Short stature, Polyhydramnios, Hydrocephalus, Colpocephaly, Intrauterine growth retardation, Fail... OMIM:619833
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Edema, Polyhydramnios, Cryptorchidism, Abnormal resp... ORPHA:98905
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Postnatal growth retardation, Hydrocephal... ORPHA:3309
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, Atelec... OMIM:300219
Autosomal Recessive Primary Microcephaly
Growth delay, Agenesis of corpus callosum, Short stature, Ventriculomegaly ORPHA:2512
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Fanconi Anemia, Complementation Group B
Hydrocephalus, Abnormal lung lobation, Tracheoesophageal fistula, Growth delay, Intrauterine grow... OMIM:300514
Craniofacial Dyssynostosis With Short Stature
Short stature, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:218350
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
B4Galt1-Cdg
Inflammatory abnormality of the skin, Small for gestational age, Edema, Hydrocephalus, Dandy-Walk... ORPHA:79332
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Polyhydramnios, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, Dandy-Walker mal... OMIM:225790
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Failure to thr... ORPHA:169160
48,Xxyy Syndrome
Recurrent respiratory infections, Apnea, Cryptorchidism, Asthma, Obesity, Azoospermia, Chronic ot... ORPHA:10
Coach Syndrome 2
Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum OMIM:619111
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Mitochondrial Complex I Deficiency, Nuclear Type 6
Ventriculomegaly, Failure to thrive, Apnea, Respiratory insufficiency OMIM:618228
Fraser Syndrome 3
Nonimmune hydrops fetalis, Hydrocephalus, Abnormal lung lobation, Stillbirth, Ascites, Tracheal a... OMIM:617667
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Respiratory tract infection, Laryngotracheomalacia, Short stature, Ventriculomegaly OMIM:618547
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Dysplastic corpus callosum, Recurrent pneumonia, Extra-axial cerebrospinal fluid a... OMIM:619179
6Q25 Microdeletion Syndrome
Agenesis of corpus callosum, Failure to thrive, Short stature, Ventriculomegaly ORPHA:251056
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Tako-Tsubo Cardiomyopathy
Dyspnea, Obesity, Pulmonary edema ORPHA:66529
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive, Respiratory insufficiency ORPHA:1895
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Hydrocephalus, Myelomeningocele, Respiratory insufficiency ORPHA:1914
Hypophosphatasia
Emphysema, Short stature, Failure to thrive in infancy, Respiratory insufficiency ORPHA:436
Hereditary Bullous Dystrophy, Macular Type
Short stature, Pneumonia, Cryptorchidism, Growth delay, Decreased testicular size ORPHA:1867
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Seckel Syndrome 9
Recurrent respiratory infections, Small for gestational age, Short stature, Polyhydramnios, Asthm... OMIM:616777
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Obesity OMIM:616521
49,Xxxyy Syndrome
Eunuchoid habitus, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... ORPHA:261534
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Combined Oxidative Phosphorylation Deficiency 25
Ventriculomegaly, Failure to thrive, Short stature, Aspiration pneumonia OMIM:616430
Lymphangioleiomyomatosis
Recurrent respiratory infections, Lymphedema, Dyspnea, Atelectasis, Pneumothorax, Hydrocephalus, ... ORPHA:538
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Growth delay, Inflammation of the large intestine, Peau d'orange, Intrauterine gro... OMIM:614576
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Pulmonary edema ORPHA:73224
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Hydrocephalus, Hydrops fetalis, Oligohydramnios ORPHA:163596
Krabbe Disease
Hydrocephalus, Failure to thrive, Increased CSF protein concentration OMIM:245200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Intrauterine gr... OMIM:616897
Axial Mesodermal Dysplasia Spectrum
Short stature, Hydrocephalus, Tracheoesophageal fistula, Aplasia/Hypoplasia of the lungs, Oligohy... ORPHA:1834
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... OMIM:618108
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Heterotaxy, Pulmonary artery hypoplasia, Total anomalous pulmonary venous... OMIM:616749
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Agenesis of corpus callosum, Ventricul... ORPHA:168486
Brain Small Vessel Disease 2
Growth delay, Ventriculomegaly OMIM:614483
Plasminogen Deficiency, Type I
Hydrocephalus, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Dandy... OMIM:217090
Immunodeficiency 58
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Short stature, Allergic ... OMIM:618131
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Hydrocephalus, Short stature, Ventriculomegaly OMIM:109120
Peho Syndrome
Recurrent respiratory infections, Palpebral edema, Hydrocephalus, Pedal edema, Peripheral edema, ... ORPHA:2836
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Polyhydramnios... OMIM:310400
Bresek Syndrome
Cryptorchidism, Hydrocephalus, Growth delay, Neonatal death, Intrauterine growth retardation, Dec... ORPHA:85284
Thanatophoric Dysplasia, Type Ii
Polyhydramnios, Respiratory insufficiency, Neonatal death, Lethal short-limbed short stature, Ven... OMIM:187601
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Tracheal stenosis, Diffuse alveolar hemorrhage, Keratitis, Localized pul... OMIM:608710
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Short stature OMIM:300484
Maternal Uniparental Disomy Of Chromosome 1
Growth delay, Failure to thrive, Short stature, Ventriculomegaly ORPHA:251009
Tenorio Syndrome
Apnea, Hydrocephalus, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomati... OMIM:616260
Hydrolethalus
Polyhydramnios, Cryptorchidism, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Tracheal... ORPHA:2189
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Riddle Syndrome
Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary ... ORPHA:420741
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Short stature OMIM:300558
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Edema, Pericardial effusion, Hydrocephalus, Pleural effusion, Dandy-Walker malf... OMIM:617822
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Short stature, Obesity, Ventriculomegaly OMIM:615630
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum, ... OMIM:207950
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Short stature, Disproportionate shor... ORPHA:1855
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis... OMIM:242700
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Lateral ventricle dilatation, Ple... OMIM:617397
3C Syndrome
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Hydrocephalus, Dan... ORPHA:7
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Short stature, Ventriculomegaly, Increased CSF lactate OMIM:619059
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obes... OMIM:300957
Mirage Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Aspiration pneumonia, Decreased body weight, Intrau... OMIM:617053
49,Xyyyy Syndrome
Eunuchoid habitus, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... ORPHA:99330
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Hydrocephalus, Obesity ORPHA:171839
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis... ORPHA:292
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, ... ORPHA:2169
Chromosome 3Q13.31 Deletion Syndrome
Alobar holoprosencephaly, Cryptorchidism, Agenesis of corpus callosum, Decreased testicular size,... OMIM:615433
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Pericardial effusion, Dyspnea, Angioedema, Uveitis, Restrictive ventilat... ORPHA:36412
Common Variable Immunodeficiency
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... ORPHA:1572
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus, Short stature ORPHA:2701
Fusariosis
Fasciitis, Sinusitis, Lung abscess, Pneumonia, Myositis, Productive cough, Maculopapular exanthem... ORPHA:228119
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Nocardiosis
Respiratory distress, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Myelomeningocele, Tracheoesophageal fistula, Pulmonary hypoplasia, S... ORPHA:2437
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Albers-Schönberg Osteopetrosis
Osteomyelitis, Short stature, Mandibular osteomyelitis, Hydrocephalus, Osteoarthritis, Arthritis ORPHA:53
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Respiratory fail... OMIM:618291
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Cryptorchidism, Hydrocephalus, Hydrops fetalis, Respiratory ... ORPHA:1865
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation, Oligohydramnios OMIM:614219
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus, Inflammatory abnormality of the eye, Respiratory insufficiency ORPHA:93262
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly ORPHA:2182
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus, Small for gestational age, Disproportionate short-trunk short stature OMIM:613330
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Eczema, Cryptorchidism, Recurrent pneumonia, Recurrent otitis media, Tracheobronchomalacia, Ventr... ORPHA:500159
Farber Disease
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... ORPHA:333
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Mucopolysaccharidosis, Type Ii
Severe short stature, Short stature, Asthma, Recurrent pneumonia, Hydrocephalus, Recurrent otitis... OMIM:309900
Short-Rib Thoracic Dysplasia 12
Edema, Polyhydramnios, Atelectasis, Hydrocephalus, Anencephaly, Respiratory insufficiency, Holopr... OMIM:269860
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Abnormality of the pulmonary artery, Spinal dysraphism ORPHA:1926
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... ORPHA:36234
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hydrocephalus ORPHA:99947
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced fo... OMIM:613686
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Omenn Syndrome
Pneumonia, Edema, Thyroiditis, Erythroderma, Failure to thrive ORPHA:39041
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Griscelli Syndrome
Encephalocele, Short stature, Hydrocephalus, Hepatitis, Pedal edema, Ascites ORPHA:381
Bloom Syndrome
Small for gestational age, Pneumonia, Bronchitis, Skin rash, Respiratory tract infection, Chronic... ORPHA:125
Moyamoya Disease
Ventriculomegaly ORPHA:2573
Desmosterolosis
Severe short stature, Hydrocephalus, Anomalous pulmonary venous return, Growth delay, Intrauterin... ORPHA:35107
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Abnormal lung lobation, Anomalous pulmonary venous return, Respiratory insufficienc... ORPHA:1120
Coccidioidomycosis
Respiratory distress, Morbilliform rash, Cough, Abnormal sperm morphology, Hypoglycorrhachia, Pne... ORPHA:228123
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Respiratory insufficiency, Extra-axial cerebrospinal fluid accumulati... OMIM:616900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Short stature, Overweight, Dilated third ventricle, Hydrocephal... OMIM:619575
Hogue-Janssen Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Growth delay, Holoprosencephaly, Agenes... ORPHA:77298
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Obesity OMIM:601794
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Hydro... ORPHA:1546
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... ORPHA:911
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Optic Pathway Glioma
Growth delay, Hydrocephalus ORPHA:2086
Trisomy 1Q
Polyhydramnios, Cryptorchidism, Hydrocephalus, Increased nuchal translucency, Hydrops fetalis, Ag... ORPHA:261344
Hennekam-Beemer Syndrome
Short stature, Pneumonia, Respiratory insufficiency, Failure to thrive, Ventriculomegaly ORPHA:2135
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Short stature, Overweight, Cryptorchidism, Asthma, Hydrocephalus, Dilated thir... ORPHA:500055
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Dandy-Walker malformation, Ventriculomegaly, Apnea, Occipital e... ORPHA:397715
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Mucopolysaccharidosis, Type Vii
Severe short stature, Short stature, Postnatal growth retardation, Hydrocephalus, Recurrent upper... OMIM:253220
Sporadic Creutzfeldt-Jakob Disease
Increased CSF protein concentration, Respiratory failure requiring assisted ventilation, Recurren... ORPHA:204
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... ORPHA:486
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, ... OMIM:307200
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Growth delay, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620156
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Houge-Janssens Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Ventriculomegaly OMIM:616355
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Alg8-Cdg
Small for gestational age, Edema, Hydrops fetalis, Ascites, Intrauterine growth retardation, Fail... ORPHA:79325
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Dehydration, Nephritis, Infectious e... ORPHA:2552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Joubert Syndrome 30
Dandy-Walker malformation, Tachypnea, Apnea, Ventriculomegaly OMIM:617622
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Ventriculomegaly, Failure to thrive, Respiratory insufficiency ORPHA:88639
Melioidosis
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... ORPHA:31202
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Ventriculomegaly ORPHA:2172
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Congenital Sialidosis Type 2
Respiratory tract infection, Hydrocephalus, Ascites, Edema ORPHA:93400
Distal Triplication 15Q
Large for gestational age, Hydrocephalus, Hydrocele testis, Pulmonary hypoplasia, Intrauterine gr... ORPHA:314588
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ve... ORPHA:370959
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardia... ORPHA:781
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Recurrent otitis media, Failure to thrive, Ventriculom... OMIM:617788
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Short stature, Postnatal growth retardation, Cryptorchidism, Hydroceph... OMIM:257300
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Growth delay, Interstitial pneumonitis, Chronic... OMIM:616433
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Vacterl With Hydrocephalus
Spina bifida, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Tracheoesophage... ORPHA:3412
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Cough, Chronic o... ORPHA:2314
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum OMIM:307000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Failur... ORPHA:37042
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Desmosterolosis
Rhizomelia, Hydrocephalus, Partial agenesis of the corpus callosum, Total anomalous pulmonary ven... OMIM:602398
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Xq12-Q13.3 Duplication Syndrome
Short stature, Eczema, Cryptorchidism, Recurrent upper respiratory tract infections, Ventriculome... ORPHA:314389
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Cryptorchidism, Failure to thrive, Agenesis of corpu... OMIM:243310
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Myocarditis, Angioedema, Hepatitis, Erythroderma, Weight loss, Thyro... ORPHA:139402
Crouzon Syndrome
Hydrocephalus, Conjunctivitis, Respiratory insufficiency ORPHA:207
Joubert Syndrome
Encephalocele, Apnea, Episodic tachypnea, Situs inversus totalis, Hydrocephalus, Abnormal pattern... ORPHA:475
Microhydranencephaly
Short stature, Growth delay, Hydranencephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:605013
1Q44 Microdeletion Syndrome
Short stature, Hydrocephalus, Growth delay, Agenesis of corpus callosum, Ventriculomegaly ORPHA:238769
H Syndrome
Psoriasiform dermatitis, Short stature, Recurrent pharyngitis, Hydrocephalus, Bronchiectasis, Upp... ORPHA:168569
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract i... OMIM:615952
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Cough, Recurrent cutaneous fungal infe... ORPHA:276
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis OMIM:601005
Achondroplasia
Respiratory distress, Rhizomelia, Polyhydramnios, Hydrocephalus, Upper airway obstruction, Pulmon... OMIM:100800
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Dec... OMIM:608013
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Hydrocephalus, Disproporti... OMIM:616482
Joubert Syndrome 9
Encephalocele, Apnea, Episodic tachypnea, Ventriculomegaly OMIM:612285
Triploidy
Polyhydramnios, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growt... ORPHA:3376
Orofaciodigital Syndrome Xvii
Short stature, Ventriculomegaly, Decreased body weight OMIM:617926
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Ascites, Pulmonary artery atresia, Pulmonary arterial hypertension,... ORPHA:974
Meier-Gorlin Syndrome 4
Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda... OMIM:613804
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Short stature, Asthma, Dehydration, Erythrod... ORPHA:634
Chondrodysplasia Punctata 2, X-Linked Dominant
Dandy-Walker malformation, Rhizomelia, Edema, Polyhydramnios, Postnatal growth retardation, Eryth... OMIM:302960
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, Dandy-Walker m... OMIM:612938
Geleophysic Dysplasia 3
Short stature, Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Tracheal stenosis OMIM:617809
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Increased CSF lactate, Growth delay, Pulmonary arterial hypertension, Failu... OMIM:619272
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Cough ORPHA:216866
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Short stature, Small for gestational age, Polyhydramnios, Cryptorchidism, Pulmonary artery atresi... OMIM:301056
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine gro... OMIM:612863
Achondroplasia
Rhizomelia, Hydrocephalus, Disproportionate short stature, Obesity, Hypoxemia, Restrictive ventil... ORPHA:15
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Hydrocephalus, Tubulointerstitial nephritis, Agenesis of corpus callosum, Dandy-Wa... ORPHA:459061
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation OMIM:300863
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Facial edema, Nonproductive c... ORPHA:319213
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cryptorchidism, Ventriculomegaly OMIM:613730
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Hydrocephalus, Short stature, Oligohydramnios OMIM:616294
Cutis Laxa, Autosomal Recessive, Type Iib
Intrauterine growth retardation, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum OMIM:612940
Pyruvate Dehydrogenase E1-Beta Deficiency
Intrauterine growth retardation, Agenesis of corpus callosum, Ventriculomegaly, Decreased body we... ORPHA:255138
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... ORPHA:26793
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Ag... ORPHA:171680
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Lissencephaly Due To Lis1 Mutation
Ventriculomegaly, Polyhydramnios, Aspiration pneumonia ORPHA:95232
Brucellosis
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Arteritis, Ple... ORPHA:1304
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Increased CSF lactate, Pulmonary hypoplasia, Decreased CSF co... OMIM:620306
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure, Small for gestational age, Ventriculomegaly OMIM:618804
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Recurrent lower... OMIM:613179
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Sanjad-Sakati Syndrome
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Cryptorchidism, Se... ORPHA:2323
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ventriculomegaly, Short stature, Cachexia ORPHA:1933
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Intrauterine growth retardation, Ventriculomegaly, Increased CSF... OMIM:619051
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Anomalous pulmonary venous return ORPHA:2184
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:60040
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Congenital-Onset Steinert Myotonic Dystrophy
Neonatal respiratory distress, Polyhydramnios, Obesity, Decreased body weight, Ventriculomegaly ORPHA:589821
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Failure to thrive OMIM:620157
Nephronophthisis 18
Tubulointerstitial nephritis, Hydrocephalus OMIM:615862
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Obesity ORPHA:2180
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum,... OMIM:613001
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... ORPHA:258
Gracile Bone Dysplasia
Ascites, Hydrocephalus, Failure to thrive, Short stature OMIM:602361
Proteus-Like Syndrome
Communicating hydrocephalus, Bronchogenic cyst, Hydrocephalus ORPHA:2969
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Hydrocephalus, Short stature, Decreased body weight OMIM:614886
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Intrauterine growth retardation, Partial agenesis of the corpus callosum, Atopic dermatitis, Vent... OMIM:619074
Multiple Sulfatase Deficiency
Short stature, Periorbital edema, Hydrocephalus, Increased CSF protein concentration, Ventriculom... OMIM:272200
Icf Syndrome
Communicating hydrocephalus, Recurrent respiratory infections, Short stature ORPHA:2268
Hec Syndrome
Communicating hydrocephalus, Polyhydramnios, Vaginal hydrocele, Respiratory insufficiency ORPHA:2119
Zygomycosis
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Cough, Nephritis, I... ORPHA:73263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Hydrocephalus, Agenesis of corpus callosum OMIM:615249
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Apnea, Short stature, Hydrocephalus, Cough, Chronic ... ORPHA:579
Combined Oxidative Phosphorylation Deficiency 39
Recurrent respiratory infections, Intrauterine growth retardation, Ventriculomegaly, Increased CS... OMIM:618397
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis, Intrauterine growth retardation, Increased nuchal translucency, Ventriculomegaly OMIM:620183
Ritscher-Schinzel Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:220210
Ogden Syndrome
Postnatal growth retardation, Cryptorchidism, Pulmonary artery stenosis, Ventriculomegaly ORPHA:276432
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Polyhydramnios, Cryptorchidism, Intrauterine growth retardation, Failur... OMIM:603467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Short stature ORPHA:1946
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Short stature ORPHA:1861
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Hydroce... ORPHA:536467
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation, Dandy-Wa... OMIM:611134
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation OMIM:612301
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Recurrent aspiration pneumonia, Ventriculomegaly ORPHA:73230
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Recurrent upper respiratory tract in... OMIM:612513
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Pulmonary hypoplasia OMIM:612284
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation ORPHA:163966
Glutaric Acidemia I
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation OMIM:231670
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczematoid dermatitis, Chroni... ORPHA:83471
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Joubert Syndrome With Renal Defect
Encephalocele, Apnea, Hydrocephalus, Agenesis of corpus callosum, Abnormal pattern of respiration ORPHA:220497
Marshall-Smith Syndrome
Apnea, Short stature, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Recurrent upper re... OMIM:602535
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Pulmonary hypoplasia, Occipital meni... OMIM:616546
Fg Syndrome Type 1
Short stature, Cryptorchidism, Hydrocephalus, Pulmonary arterial hypertension, Slender build, Ven... ORPHA:93932
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Hydrocephalus, Osteomyelitis, Mandibular osteomyelitis OMIM:259710
Kleefstra Syndrome
Recurrent respiratory infections, Short stature, Dyspnea, Pulmonary artery stenosis, Cryptorchidi... ORPHA:261494
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Disproportionate short stature, Truncal obesity, Tracheal steno... ORPHA:2637
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Polyhydramnios OMIM:600559
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Cryptorchidism, Holoprosencephaly, Pulmonary hypoplasia, Ventriculomegaly OMIM:612530
Halperin-Birk Syndrome
Colpocephaly, Aspiration, Intrauterine growth retardation, Failure to thrive, Agenesis of corpus ... OMIM:618651
Diets-Jongmans Syndrome
Heterotaxy, Short stature, Polyhydramnios, Cryptorchidism OMIM:618846
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
47,Xyy Syndrome
Cryptorchidism, Asthma, Hydrocephalus, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Lymphadeniti... OMIM:306400
Osteootohepatoenteric Syndrome
Asthma, Hydrocephalus, Dehydration, Weight loss, Failure to thrive OMIM:619377
Gm1 Gangliosidosis
Recurrent respiratory infections, Short stature, Hydrops fetalis, Weight loss, Aspiration pneumon... ORPHA:354
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Intrauterine growth ret... OMIM:619229
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis OMIM:619652
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Short stature, Anomalous pulmonary venous r... OMIM:619657
Rabin-Pappas Syndrome
Hypoventilation, Failure to thrive in infancy, Hydrocephalus, Obesity, Tracheomalacia OMIM:620155
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:1647
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Hydrocephalus, Apnea, Ventriculomegaly OMIM:614969
Gorlin Syndrome
Cryptorchidism, Hydrocephalus ORPHA:377
Joubert Syndrome 2
Central apnea, Enlarged fossa interpeduncularis, Encephalocele, Episodic tachypnea, Hydrocephalus... OMIM:608091
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Recurrent upper re... OMIM:620296
Pyruvate Carboxylase Deficiency
Increased CSF alanine concentration, Increased CSF citrulline concentration, Tachypnea, Dehydrati... ORPHA:3008
Joubert Syndrome With Ocular Defect
Encephalocele, Apnea, Hydrocephalus, Agenesis of corpus callosum, Abnormal pattern of respiration ORPHA:220493
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Dyspnea, Atelectasis, Myocarditis, He... ORPHA:728
Osteopetrosis, Autosomal Recessive 5
Short stature, Hydrocephalus, Growth delay, Respiratory failure, Stillbirth, Ascites, Ventriculom... OMIM:259720
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Recurrent respiratory infections, Small for gestational age, Short stature, Crypto... ORPHA:98754
S-Adenosylhomocysteine Hydrolase Deficiency
Hydrops fetalis, Growth delay, Respiratory failure, Failure to thrive, Ventriculomegaly ORPHA:88618
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Stridor, Dyspnea, Ventriculomegaly, Respiratory insufficiency OMIM:615182
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculo... ORPHA:899
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Short stature, Pneumonia, Restrictive ventilatory defect, Joint... OMIM:607944
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation OMIM:612582
Mucopolysaccharidosis, Type Vi
Short stature, Pneumonia, Hydrocephalus, Recurrent upper respiratory tract infections, Disproport... OMIM:253200
Cutis Laxa, Autosomal Recessive, Type Ic
Periorbital edema, Atelectasis, Recurrent pneumonia, Growth delay, Pulmonary hypoplasia, Tracheom... OMIM:613177
Rhombencephalosynapsis
Hydrocephalus, Tracheoesophageal fistula, Ventriculomegaly ORPHA:59315
Tetrasomy 15Q26
Intrauterine growth retardation, Hydrocephalus, Dandy-Walker malformation OMIM:614846
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Recurrent respiratory infections, Small for gestational age, Short stature, Crypto... ORPHA:98793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Cerebral edema, Increased CSF lactate, Bradypnea, Respiratory failure, Cervical myelo... OMIM:617186
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Abnormality of the ... ORPHA:2306
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Dandy-Walker malformation OMIM:614424
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Pneumonia, Recurrent upper respiratory tract infections, Otitis media OMIM:602450
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Recurrent respiratory infections, Small for gestational age, Short stature, Crypto... ORPHA:177904
Intellectual Developmental Disorder, Autosomal Dominant 65
Agenesis of corpus callosum, Noncommunicating hydrocephalus OMIM:619320
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Short stature, Bilateral cryptorchidism, Recurrent pneumonia, Agenesis of corpus callosum, Recurr... OMIM:300472
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Trisomy 17P
Growth delay, Intrauterine growth retardation, Hydrocephalus, Short stature ORPHA:261290
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Recurrent respiratory infections, Small for gestational age, Short stature, Crypto... ORPHA:177901
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Short stature, Seborrheic dermatitis, Truncal obesity, Aspiration pneumonia, Ascites, Ventriculom... OMIM:301072
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Polyhydramnios, Partial agenesis of the corpus callosum, Increased CSF lactate, Agenesis of corpu... ORPHA:500144
Hurler Syndrome
Recurrent respiratory infections, Short stature, Hydrocephalus, Growth delay, Rhinitis ORPHA:93473
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Failure to thrive, Osteomyelitis OMIM:259700
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Agenesis of corpus callosum, Ventriculomegaly OMIM:616449
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Edema, Pericardial effusion, Hepatitis, Ato... OMIM:615846
Shigellosis
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, D... ORPHA:810
Jacobsen Syndrome
Recurrent respiratory infections, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Intrauterine ... OMIM:147791
Congenital Myopathy 22A, Classic
Neonatal death, Polyhydramnios, Normal pressure hydrocephalus, Respiratory insufficiency OMIM:620351
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
Lowry-Maclean Syndrome
Bilateral cryptorchidism, Intrauterine growth retardation, Hydrocephalus, Growth delay ORPHA:2409
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Tracheoesophageal fistula, Hydrops fetalis, Tracheomalacia, Agenesis of corpus cal... ORPHA:268249
Developmental And Epileptic Encephalopathy 49
Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Neonatal Lupus Erythematosus
Skin rash, Hydrocephalus, Malar rash, Maculopapular exanthema ORPHA:398124
Listeriosis
Respiratory distress, Increased CSF protein concentration, Pericarditis, Osteomyelitis, Pneumonia... ORPHA:533
Hemangioblastoma
Hydrocephalus ORPHA:252054
Acrodysostosis 1 With Or Without Hormone Resistance
Short stature, Small for gestational age, Mild postnatal growth retardation, Cryptorchidism, Hydr... OMIM:101800
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Right atrial isomerism, Polyhydramnios, Aqueductal... OMIM:306955
Prader-Willi Syndrome
Hypoventilation, Recurrent respiratory infections, Failure to thrive in infancy, Short stature, P... OMIM:176270
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Failure to thrive, Apnea, Ventriculomegaly ORPHA:395
Kleefstra Syndrome Due To A Point Mutation
Short stature, Large for gestational age, Tracheomalacia, Failure to thrive, Ventriculomegaly ORPHA:261652
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Capillary Malformation-Arteriovenous Malformation
Nonimmune hydrops fetalis, Epistaxis, Lymphedema, Hydrocephalus, Chylothorax ORPHA:137667
Luscan-Lumish Syndrome
Recurrent otitis media, Short stature, Obesity, Ventriculomegaly OMIM:616831
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Hepatitis, Arthritis, Erythroderma, Failure to thrive, Ventriculomegaly OMIM:304790
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Hydrocephalus, Oligozoospermia, Delayed puberty, Ascites ORPHA:91348
Hurler Syndrome
Recurrent otitis media, Recurrent respiratory infections, Hydrocephalus, Short stature OMIM:607014
Acromelic Frontonasal Dysplasia
Encephalocele, Cryptorchidism, Meningocele, Choroid plexus cyst, Upper airway obstruction, Agenes... ORPHA:1827
Mosaic Trisomy 9
Spina bifida, Polyhydramnios, Cryptorchidism, Abnormal lung lobation, Hydrops fetalis, Intrauteri... ORPHA:99776
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Alg12-Cdg
Recurrent respiratory infections, Edema, Polyhydramnios, Recurrent pharyngitis, Cryptorchidism, R... ORPHA:79324
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly, Pulmonary hypoplasia ORPHA:1335
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Dysplastic corpus callosum, Tubulointerstitial nephritis, Lateral v... ORPHA:488627
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Cryptorchidism, Respiratory insufficiency ORPHA:1237
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Tachypnea, Apnea ORPHA:2318
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Failure to thrive in infancy, Chronic mucocutaneous candidiasis... ORPHA:79124
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Polyhydramnios, Ventriculomegaly OMIM:219730
Fetal Akinesia Deformation Sequence 1
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Cryptorchidism, Hydrocephal... OMIM:208150
Sim1-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Cryptorchidism, Xerostomia, Obesity, Abdominal obesity, Failure... ORPHA:398079
1Q21.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Intrauterine growth retardation, Failure to thrive,... ORPHA:250989
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Cachexia, Hydrocephalus, Abnormal pulmonary interstitial morpho... ORPHA:2072
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Keratoconjunctivitis sicca, Intrauterine growth ret... OMIM:616914
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Dyspnea, Iridocyclitis, Bronchiectasis, Abnormal pulmonary interstitial mor... OMIM:181000
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... ORPHA:1018
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus, Ventriculomegaly OMIM:616538
Cystic Fibrosis
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R... OMIM:219700
Chops Syndrome
Short stature, Cryptorchidism, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, ... OMIM:616368
Isolated Sedoheptulokinase Deficiency
Short stature, Neonatal asphyxia, Hepatitis, Severe postnatal growth retardation, Ventriculomegaly ORPHA:440713
Amoebiasis Due To Free-Living Amoebae
Increased CSF protein concentration, Sinusitis, Pneumonia, Abnormal cerebrospinal fluid morpholog... ORPHA:68
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:99125
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Omenn Syndrome
Failure to thrive, Pneumonia, Erythroderma OMIM:603554
Prader-Willi Syndrome
Recurrent respiratory infections, Short stature, Edema, Cryptorchidism, Xerostomia, Abdominal obe... ORPHA:739
22Q11.2 Deletion Syndrome
Acne, Short stature, Spina bifida, Seborrheic dermatitis, Polyhydramnios, Atelectasis, Asthma, Ch... ORPHA:567
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Lymphedema, Cryptorchidism, Pulmonary lymphangiectasia, Ascites, Ventriculomegaly OMIM:235255
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Pulmonary lymphangiectasia, Ascites... ORPHA:1655
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus, Short stature OMIM:112240
Gaucher Disease
Osteomyelitis, Short stature, Hydrocephalus, Osteoarthritis, Abnormal pulmonary interstitial morp... ORPHA:355
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Respiratory insufficiency, Holoprosencephaly, Agenesis of corpus ca... OMIM:253800
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Holoprosenc... ORPHA:2166
Alobar Holoprosencephaly
Central apnea, Short stature, Hydrocephalus, Growth delay, Neural tube defect, Aspiration pneumon... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Short stature, Hydrocephalus, Growth delay, Neural tube defect, Aspiration pneumon... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Short stature, Hydrocephalus, Growth delay, Neural tube defect, Aspiration pneumon... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Short stature, Hydrocephalus, Growth delay, Neural tube defect, Aspiration pneumon... ORPHA:220386
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Brain Malformations With Or Without Urinary Tract Defects
Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly OMIM:613735
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Intrauterine growth retardation, Eczema, Ventriculomegaly ORPHA:96181
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ventriculomegaly, Meningocele, Short stature, Respiratory insufficiency ORPHA:2031
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrocephalus, Hydrops fetalis, Dehydration, Growth del... ORPHA:79282
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia, Failure to thrive ORPHA:90652
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Hydrocephalus, Upper airway obst... ORPHA:581
Apert Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Respiratory insufficiency ORPHA:87
Endocrine-Cerebroosteodysplasia
Polyhydramnios, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Ve... OMIM:612651
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Holoprosencephaly 14
Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call... OMIM:619895
Alexander Disease
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Agenesis of corpus callosum, Failu... ORPHA:58
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Small for gestational age, Eczema, Testicular neoplasm, Spina b... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Small for gestational age, Eczema, Testicular neoplasm, Spina b... ORPHA:363958
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Osteopathia Striata With Cranial Sclerosis
Apnea, Short stature, Polyhydramnios, Hydrocephalus, Partial agenesis of the corpus callosum, Spi... OMIM:300373
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature OMIM:224400
Raine Syndrome
Neonatal death, Hydrocephalus, Short stature, Pulmonary hypoplasia OMIM:259775
Medulloblastoma
Neoplasm of the lung, Hydrocephalus ORPHA:616
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Short stature, Atelectasis, Cryptorchidism, Cheilitis, Respirat... ORPHA:534
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Short stature, Cryptorchidism, Xerostomia, Increased body weigh... ORPHA:398069
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Short stature OMIM:258865
Cerebrofacioarticular Syndrome
Short stature, Lymphedema, Dysplastic corpus callosum, Tracheomalacia, Agenesis of corpus callosu... ORPHA:314679
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Aspiration pneumonia OMIM:619167
Monosomy 18Q
Short stature, Bilateral cryptorchidism, Hydrocephalus, Growth delay, Failure to thrive, Slender ... ORPHA:1600
Mosaic Variegated Aneuploidy Syndrome
Apnea, Short stature, Polyhydramnios, Increased nuchal translucency, Abnormal lung lobation, Grow... ORPHA:1052
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Short stature, Skin rash, Cachexia ORPHA:220295
Holoprosencephaly
Encephalocele, Failure to thrive in infancy, Cryptorchidism, Hydrocephalus, Respiratory insuffici... ORPHA:2162
Muenke Syndrome
Hydrocephalus ORPHA:53271
Fumarase Deficiency
Necrotizing enterocolitis, Polyhydramnios, Choroid plexus cyst, Agenesis of corpus callosum, Asci... OMIM:606812
Pfeiffer Syndrome Type 2
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia ORPHA:93259
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Eczema, Allergic rhinitis, Hydrocephalus, Asthma OMIM:618162
Genitopalatocardiac Syndrome
Cryptorchidism, Hydrocephalus, Intrauterine growth retardation ORPHA:2075
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Cardiofaciocutaneous Syndrome 1
Short stature, Polyhydramnios, Hydrocephalus, Atopic dermatitis, Failure to thrive OMIM:115150
Oxoglutaric Aciduria
Hydrocephalus, Short stature ORPHA:31
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Polyhydramnios, Hydroce... OMIM:114290
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Growth delay, Ventriculomegaly, Peripheral pulmonary artery stenosis OMIM:614749
Marden-Walker Syndrome
Severe short stature, Situs inversus totalis, Hydrocephalus, Growth delay, Intrauterine growth re... ORPHA:2461
Arachnoiditis
Hydrocephalus ORPHA:137817
Coffin-Siris Syndrome
Postnatal growth retardation, Cryptorchidism, Recurrent upper respiratory tract infections, Growt... ORPHA:1465
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Emphysema, Pulmonary fibrosis OMIM:620365
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Neonatal respiratory distress, Hydrocephalus, Tubulointerstitial nephritis, Agenesis of corpus ca... ORPHA:228308
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Pulmonary hypoplasia OMIM:313850
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Agenesis of corpus callosum, Ventriculomegaly ORPHA:452
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia, Macular edema ORPHA:247691
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Postnatal growth retardation, Lateral ventricle dilatation, Normal pressure hydrocephalus, Partia... ORPHA:300570
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:123790
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Opitz Gbbb Syndrome
Ventriculomegaly, Short stature, Cryptorchidism, Tracheoesophageal fistula, Stridor, Agenesis of ... ORPHA:2745
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Hydrocephalus, Growth delay, ... ORPHA:667
Aymé-Gripp Syndrome
Pericarditis, Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Pericar... ORPHA:1272
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Hydrocephalus, Stridor, Conjunctivitis, P... ORPHA:505248
Fontaine Progeroid Syndrome
Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Pneumothorax, Oligohydra... OMIM:612289
Dubowitz Syndrome
Short stature, Eczema, Postnatal growth retardation, Cryptorchidism, Asthma, Hydrocephalus, Respi... ORPHA:235
Fryns Syndrome
Polyhydramnios, Cryptorchidism, Pulmonary hypoplasia, Dandy-Walker malformation, Agenesis of corp... ORPHA:2059
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Pleural empyema, Septic arth... ORPHA:544482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,... OMIM:614643
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Multiple pulmonary cysts, Failure to thrive in infancy, Growth delay, Failure to thrive, Agenesis... OMIM:619418
15Q Overgrowth Syndrome
Hydrocephalus, Pulmonary arterial hypertension, Agenesis of corpus callosum, Dandy-Walker malform... ORPHA:314585
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Short stature, Lymphedema, Cryptorchidism, Hydrocephalus ORPHA:1340
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... ORPHA:365
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus OMIM:617244
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Failure to thrive, Pneumonia ORPHA:90790
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Cryptorchidism, Hydrocephalu... OMIM:249000
Pseudotrisomy 13 Syndrome
Encephalocele, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum OMIM:264480
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Hydrocephalus, Polyhydramnios, Ventriculomegaly OMIM:613603
Trisomy 8P
Peripheral pulmonary artery stenosis, Cryptorchidism, Hydrocephalus, Recurrent upper respiratory ... ORPHA:264450
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Edema, Dyspnea, Pneumothorax, Dehydra... ORPHA:79404
Cadds
Intrauterine growth retardation, Cholangitis, Ventriculomegaly ORPHA:369942
Hydrolethalus Syndrome 1
Polyhydramnios, Anencephaly, Abnormal lung lobation, Stillbirth, Severe hydrocephalus, Tracheal s... OMIM:236680
Hoyeraal-Hreidarsson Syndrome
Intrauterine growth retardation, Failure to thrive, Short stature, Ventriculomegaly ORPHA:3322
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Neonatal respiratory distress, Agenesis of corpus callosum, Hydroce... ORPHA:157
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight, Weight l... ORPHA:2298
Cerebral Visual Impairment
Hydrocephalus, Infectious encephalitis ORPHA:447788
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... OMIM:619381
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Ventriculomegaly OMIM:617784
7Q11.23 Microduplication Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Obesity, Growth delay, Tracheomalacia, Chronic otit... ORPHA:96121
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Hydrocephalus ORPHA:1555
Bohring-Opitz Syndrome
Recurrent respiratory infections, Apnea, Short stature, Severe failure to thrive, Intrauterine gr... ORPHA:97297
Crouzon Syndrome
Keratitis, Hydrocephalus, Conjunctivitis OMIM:123500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:613150
Dural Sinus Malformation
Myelopathy, Hydrocephalus, Cerebral edema ORPHA:97339
Fanconi Anemia, Complementation Group D2
Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistul... OMIM:227646
Apert Syndrome
Acne, Cryptorchidism, Hydrocephalus, Rhizomelic arm shortening, Chronic otitis media, Agenesis of... OMIM:101200
Cystic Fibrosis
Recurrent respiratory infections, Sinusitis, Nasal polyposis, Reduced forced expiratory volume in... ORPHA:586
Thakker-Donnai Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Agenesis of corpus callosum, Trache... ORPHA:1780
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema, Arthritis, Chronic oral ... ORPHA:221139
Craniopharyngioma
Proportionate short stature, Postnatal growth retardation, Hydrocephalus, Obesity, Growth delay, ... ORPHA:54595
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Edema, Intrauterine growth retardation, Ventriculomegaly OMIM:616038
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Lymphocytic interstitial pneumonia, Osteomyelitis, Re... ORPHA:2968
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele, Short stature OMIM:130720
Sarcoidosis
Abnormal nasal mucosa morphology, Abnormal cerebrospinal fluid morphology, Abnormal lung morpholo... ORPHA:797
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Hydrocephalus OMIM:619951
Smith-Lemli-Opitz Syndrome
Short stature, Eczema, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Ab... OMIM:270400
Multiple Sulfatase Deficiency
Hydrocephalus, Short stature ORPHA:585
Costello Syndrome
Short stature, Polyhydramnios, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respirator... OMIM:218040
Galloway-Mowat Syndrome 3
Short stature, Edema, Intrauterine growth retardation, Failure to thrive, Ventriculomegaly, Oligo... OMIM:617729
Neurooculorenal Syndrome
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Postnatal growth retardation, Partial agenesi... OMIM:620305
Chromosome 17P13.1 Deletion Syndrome
Hydrocele testis, Hydrocephalus, Spina bifida, Oligohydramnios OMIM:613776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery dilatation, Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydram... OMIM:265380
Toriello-Carey Syndrome
Neonatal respiratory distress, Short stature, Postnatal growth retardation, Cryptorchidism, Parti... ORPHA:3338
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Tay-Sachs Disease
Ventriculomegaly, Aspiration pneumonia ORPHA:845
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia OMIM:230900
Xfe Progeroid Syndrome
Failure to thrive, Severe short stature, Cachexia, Ascites, Ventriculomegaly OMIM:610965
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Ventriculomegaly, Hyperventilation OMIM:617903
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus OMIM:601499
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Short stature, Tachypnea, Abnormal pulmonary interstitial morphology, ... OMIM:613658
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Growth delay, Keratoconjunctivitis sicca, Hydrocephalus, Short stature OMIM:616007
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Short stature, Respiratory insufficiency, Colpocephaly, Agenesis of corpus callosum, Ventriculome... OMIM:617260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Cryptorchidism, Hydrocephalus, Meningoencephalocele, Dandy-Walker malfor... OMIM:236670
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencep... ORPHA:63259
Degcags Syndrome
Ventriculomegaly, Small for gestational age, Pneumonia, Polyhydramnios, Cryptorchidism, Asthma, R... OMIM:619488
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... ORPHA:2020
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Short stature, Small for gestational age, Cryptorchidism, Neonatal death, Failure to thrive, Vent... OMIM:620024
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Short stature, Growth delay, Failure to t... ORPHA:811
3-Methylglutaconic Aciduria, Type Viii
Apnea, Increased CSF lactate, Hypopnea, Growth delay, Respiratory failure, Neonatal death, Respir... OMIM:617248
Cerebrooculonasal Syndrome
Encephalocele, Postnatal growth retardation, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hydrocephalus, Disproportionate short stature, Partial agenesis of the corpus cal... OMIM:210710
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Hydrocephalus, Apnea, Abnormal pattern of respiration ORPHA:1454
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Short stature ORPHA:2720
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Tracheal stenosis ORPHA:163979
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Pneumonia, Otitis media ORPHA:309282
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Fail... OMIM:619512
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Recurrent respiratory infections, Asthma, Obesity, Truncal obesity, Abnormal pattern of respirati... ORPHA:466950
Fanconi Anemia
Short stature, Spina bifida, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Weight los... ORPHA:84
Hajdu-Cheney Syndrome
Recurrent respiratory infections, Short stature, Hydrocephalus, Periodontitis, Delayed puberty, F... ORPHA:955
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Upper airway obstruction OMIM:207410
Gm1 Gangliosidosis Type 1
Intrauterine growth retardation, Hydrops fetalis, Aspiration pneumonia ORPHA:79255
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly ORPHA:2356
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Miller-Dieker Lissencephaly Syndrome
Polyhydramnios, Cryptorchidism, Intrauterine growth retardation, Failure to thrive, Recurrent asp... OMIM:247200
Slc39A8-Cdg
Short stature, Sudden episodic apnea, Failure to thrive in infancy, Increased CSF lactate, Dispro... ORPHA:468699
Stromme Syndrome
Hydrocephalus, Stillbirth, Agenesis of corpus callosum OMIM:243605
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pulmonary artery atresia, Intrauterine growth retardation, Neonatal respiratory distress, Ventric... OMIM:618164
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature ORPHA:1064
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Recurrent respiratory infections, Short stature, Edema, Polyhydramni... OMIM:619534
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios, Communicating hydrocephalus, Ventriculomegaly OMIM:618188
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Hydrocephalus OMIM:239300
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Cryptorchidism, Choroid plexus cyst, Stillbirth, Pulmonary hypoplas... OMIM:256520
Kabuki Syndrome 1
Short stature, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Growth delay, Lateral... OMIM:147920
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Apnea, Cryptorchidism, Failure to thrive, Ventriculomegaly ORPHA:2462
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Meckel Syndrome
Encephalocele, Situs inversus totalis, Cryptorchidism, Hydrocephalus, Anencephaly, Lobar holopros... ORPHA:564
Cornelia De Lange Syndrome 1
Short stature, Pneumonia, Cryptorchidism, Otitis media, Intrauterine growth retardation OMIM:122470
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Short stature, Pneumonia... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Abnormal lateral ventricle morphology, Short stature, Pneumonia... ORPHA:353277
Opitz-Kaveggia Syndrome
Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Short stature OMIM:305450
Cholera
Dehydration, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Osteogenesis Imperfecta
Neonatal respiratory distress, Small for gestational age, Short stature, Rhizomelia, Hydrocephalu... ORPHA:666
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Kabuki Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Obesity, Failure to thrive, Ventriculomegaly ORPHA:2322
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Small for gestational age, Pneumonia, Short stature, Cryptorchi... OMIM:264090
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Rhizomelia, Hydrocephalus, Short stature OMIM:245600
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Oligohydramnios ORPHA:3016
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Fanconi Anemia, Complementation Group L
Growth delay, Intrauterine growth retardation, Hydrocephalus, Tracheoesophageal fistula OMIM:614083
Monosomy 9Q22.3
Hydrocephalus, Ventriculomegaly, Large for gestational age ORPHA:77301
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Pros... ORPHA:449395
Cousin Syndrome
Hydranencephaly, Hydrocephalus, Disproportionate short stature, Rhizomelia OMIM:260660
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Mohr Syndrome
Hydrocephalus, Short stature OMIM:252100
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Ventriculomegaly OMIM:618222
Mend Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malformation ORPHA:401973
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Hypoglycorrhachia, Postnatal growth retardation, Short stature ORPHA:168577
Yunis-Varon Syndrome
Short stature, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Incre... ORPHA:3472
Peters Plus Syndrome
Short stature, Rhizomelia, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Hydrocep... ORPHA:709
Mend Syndrome
Short stature, Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malformation OMIM:300960
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Increased nuchal translucency, Hydrocele testis, Blephariti... ORPHA:280633
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose... OMIM:610828
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Osteomyelitis, Palpebral edema, Overweight, Hydrocephalus, Delayed puberty, Obesity, Otitis media... OMIM:619475
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Dyspnea, Hydrocephalus, Growth delay, Respiratory fai... ORPHA:2556
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hydrocephalus, Failure to thrive OMIM:277400
Linear Skin Defects With Multiple Congenital Anomalies 1
Agenesis of corpus callosum, Hydrocephalus, Short stature, Colpocephaly OMIM:309801
Wolf-Hirschhorn Syndrome
Small for gestational age, Short stature, Cryptorchidism, Hydrocephalus, Growth delay, Severe pos... OMIM:194190
Laurin-Sandrow Syndrome
Cryptorchidism, Hydrocephalus ORPHA:2378
Digeorge Syndrome
Acne, Short stature, Seborrheic dermatitis, Atelectasis, Asthma, Chronic pulmonary obstruction, R... OMIM:188400
Sturge-Weber Syndrome
Hydrocephalus, Pulmonary embolism ORPHA:3205
Tetrasomy 9P
Myositis, Pericarditis, Cryptorchidism, Hydrocephalus, Oligozoospermia, Arthritis, Pulmonary hypo... ORPHA:3310
Shprintzen-Goldberg Craniosynostosis Syndrome
Cryptorchidism, Hydrocephalus OMIM:182212
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Short stature, Pneumonia, Cryptorchidism, Asthma, Obesity, Grow... ORPHA:353281
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract, Hydromyelia OMIM:600145
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Disproportionate short-limb short stature, Neonatal respiratory distress, Ventriculomegaly, Later... OMIM:619479
Cockayne Syndrome B
Severe short stature, Small for gestational age, Postnatal growth retardation, Cryptorchidism, No... OMIM:133540
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Hydrocephalus, Pulmonary hypoplasia OMIM:273395
Hajdu-Cheney Syndrome
Cryptorchidism, Hydrocephalus, Failure to thrive, Short stature OMIM:102500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:457284
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Cockayne Syndrome A
Short stature, Cryptorchidism, Severe postnatal growth retardation, Normal pressure hydrocephalus... OMIM:216400
Orofaciodigital Syndrome I
Agenesis of corpus callosum, Hydrocephalus, Myelomeningocele, Short stature OMIM:311200
Adult-Onset Autosomal Dominant Leukodystrophy
Increased CSF protein concentration, Aspiration pneumonia ORPHA:99027
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Respiratory fa... ORPHA:805
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Hydrocephalus, Oligozoospermia, Stillbirth, Delayed puberty ORPHA:95699
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short stature, Epistaxis, Polyhydramnios, Cryptorchidism, Asthma, Mi... OMIM:619841
Holoprosencephaly 9
Short stature, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Holoprosen... OMIM:610829
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Hydrocephalus, Abnormal lung lobation, Obesity, Growth delay, Lateral ventricle d... OMIM:607872
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Short stature, Recurrent upper respiratory tract infections, Upper a... ORPHA:580
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Hydrocephalus, Severe short stature, Agenesis of corpus callosum ORPHA:2658
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Microphthalmia With Limb Anomalies
Cryptorchidism, Hydrocephalus, Failure to thrive, Short stature ORPHA:1106
Ctcf-Related Neurodevelopmental Disorder
Ventriculomegaly, Small for gestational age, Cryptorchidism, Pulmonary arterial hypertension, Rec... ORPHA:363611
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Failure to thrive in infancy, Proportionate short stature, Dysplastic c... ORPHA:500150
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Growth delay OMIM:616084
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Short stature, Asthma, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hyperten... ORPHA:444077
Lhermitte-Duclos Disease
Hydrocephalus ORPHA:65285
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Peters-Plus Syndrome
Rhizomelia, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Birth le... OMIM:261540
Fraser Syndrome 1
Encephalocele, Cryptorchidism, Hydrocephalus, Myelomeningocele, Pulmonary hypoplasia OMIM:219000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Hydrocephalus, Abdominal obesity, Intrauterine growth retardation, Decreased testi... OMIM:619321
Neuroleptic Malignant Syndrome
Dehydration, Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Plague
Respiratory distress, Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Enterocolit... ORPHA:707
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Ventriculomegaly, Large for gestational age OMIM:617011
Meningioma
Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testi... ORPHA:2495
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus, Short stature OMIM:154400
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Niemann-Pick Disease Type C
Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Respiratory insufficiency, Respiratory ... ORPHA:646
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Chand Syndrome
Atelectasis ORPHA:1401
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Periodontitis, Dandy-Walker malformation ORPHA:722
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cryptorchidism, Hydrops fetalis, Respiratory insufficiency, Pulmonary hypoplasia, Disproportionat... ORPHA:93271
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Slender build, Ventriculomegaly, Large for gestational age ORPHA:457359
Loeys-Dietz Syndrome 1
Pulmonary artery aneurysm, Hydrocephalus, Eosinophilic infiltration of the esophagus OMIM:609192
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Respira... OMIM:304120
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent skin infections, Eczema, Short stature, Keratitis, Cryptorchidism, Recurrent upper resp... OMIM:308205
Wiedemann-Rautenstrauch Syndrome
Recurrent skin infections, Short stature, Cryptorchidism, Hydrocephalus, Synovitis, Growth delay,... ORPHA:3455
Pseudoaminopterin Syndrome
Cryptorchidism, Hydrocephalus, Short stature ORPHA:221120
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Short stature, Ventriculomegaly OMIM:300989
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Palpebral edema ORPHA:261337
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Situs inversus totalis, Partial anomalous pulmonary venous return, Pulmonary arte... OMIM:619702
Loeys-Dietz Syndrome 2
Pulmonary artery aneurysm, Hydrocephalus, Spontaneous pneumothorax, Eosinophilic infiltration of ... OMIM:610168
Simpson-Golabi-Behmel Syndrome, Type 1
Neonatal respiratory distress, Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormal lung lobat... OMIM:312870
Baller-Gerold Syndrome
Severe short stature, Short stature, Hydrocephalus, Severe intrauterine growth retardation, Spina... OMIM:218600
Limb Body Wall Complex
Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta ORPHA:2369
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus ORPHA:637
Neurofibromatosis Type 1
Cryptorchidism, Hydrocephalus, Short stature, Delayed puberty ORPHA:636
Focal Dermal Hypoplasia
Short stature, Cryptorchidism, Hydrocephalus, Myelomeningocele, Spina bifida occulta, Agenesis of... OMIM:305600
Doors Syndrome
Respiratory distress, Polyhydramnios, Aspiration pneumonia, Spina bifida occulta, Dandy-Walker ma... ORPHA:79500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Sinusitis, Short stature ORPHA:363700
Split Cord Malformation
Cervical spina bifida, Hydrocephalus, Lipomyelomeningocele, Myelomeningocele, Meningocele, Hydrom... ORPHA:573278
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Short stature ORPHA:3042
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Short stature, Breathing dysregulation, Cryptorchidism, Aspiration pneumonia ORPHA:438213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Hydrocephalus, Frontal encephalocel... OMIM:268300
Townes-Brocks Syndrome 1
Small for gestational age, Cryptorchidism, Hydrocephalus, Tracheoesophageal fistula, Holoprosence... OMIM:107480
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Cryptorchidism, Hydrops ... OMIM:216340
Coffin-Siris Syndrome 12
Cryptorchidism, Failure to thrive, Short stature, Noncommunicating hydrocephalus OMIM:619325
Oeis Complex
Cryptorchidism, Hydrocephalus, Myelomeningocele OMIM:258040
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Growth delay, Septic arthritis, Recurrent aspiration pneumonia ORPHA:642
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Pulmonary hypoplasia OMIM:164210
Exstrophy-Epispadias Complex
Cryptorchidism, Hydrocephalus, Spina bifida ORPHA:322
Pmm2-Cdg
Respiratory distress, Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Aspiration pneumo... ORPHA:79318
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hydrocephalus OMIM:175780

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 Zmynd10

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 Zmynd10.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS genetics (March 2018) Zmynd10tm1(KOMP)Wtsi PMC5895051

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zmynd10tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Zmynd10em1(IMPC)Tcp Exon Deletion Mice
Zmynd10em2Tcp Insertion Mice
Zmynd10tm451544(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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