Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
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.

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