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Gene: Mapk6 MGI:1354946

Gene Summary

Name:

mitogen-activated protein kinase 6

Synonyms:

Prkm6, Mapk63, D130053K17Rik, 2610021I23Rik, Erk3, ERK3, Mapk4, Prkm4

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal vitreous body morphology	Mapk6^em1(IMPC)Mbp	HET	Early adult	2.06×10^-07
decreased body length	Mapk6^em1(IMPC)Mbp	HET	Early adult	5.84×10^-05
anophthalmia	Mapk6^em1(IMPC)Mbp	HET	Early adult	0.00
decreased brain size	Mapk6^em1(IMPC)Mbp	HET	Early adult	0.00
no spontaneous movement	Mapk6^em1(IMPC)Mbp	HOM	E18.5	0.00
edema	Mapk6^em1(IMPC)Mbp	HOM	E18.5	0.00
male infertility	Mapk6^em1(IMPC)Mbp	HOM	Early adult	0.00
no spontaneous movement	Mapk6^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal brain morphology	Mapk6^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Mapk6^em1(IMPC)Mbp	HET	Early adult	0.00
cataract	Mapk6^em1(IMPC)Mbp	HET	Early adult	2.08×10^-07
increased startle reflex	Mapk6^em1(IMPC)Mbp	HET	Early adult	3.85×10^-05
preweaning lethality, incomplete penetrance	Mapk6^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Morphology Embryo E18.5

Images

6 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Mapk6 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.

Human diseases associated with Mapk6 (0 diseases)
Human diseases predicted to be associated with Mapk6 (1436 diseases)

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

The table below shows human diseases predicted to be associated to Mapk6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Lipedema	Edema	OMIM:614103
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Atrial septal defect, Oxygen d...	OMIM:610978
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Bronchogenic Cyst	Back pain, Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary...	ORPHA:2357
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato...	OMIM:253300
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Dyspnea,...	ORPHA:90117
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Anophthalmia, Iris coloboma	OMIM:616428
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Ankle...	OMIM:600561
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myo...	ORPHA:71277
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Respiratory insufficiency due to muscle weakness, Clumsiness, Eyelid myoclonus, Hepatospl...	ORPHA:2590
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Dystonia, Splenomegaly, Dys...	ORPHA:77260
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Nonproductive cough, Dyspnea, Wheezing, As...	ORPHA:2902
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar...	OMIM:619003
Atelosteogenesis, Type Ii	Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s...	OMIM:256050
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Hypertonia, Pneumonia	OMIM:254120
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr...	OMIM:614096
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma	OMIM:611638
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, S...	ORPHA:2257
Perching Syndrome	Respiratory distress, Cyanosis, Scoliosis, Dysphagia	OMIM:617055
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res...	ORPHA:244
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Ground-glass opacific...	ORPHA:1302
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Respiratory distress, Kyphoscoliosis	OMIM:619099
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity,...	ORPHA:330012
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver...	ORPHA:132
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat...	OMIM:300717
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Rigidity, Respiratory failure, Myoclonus, Aspiration pneumonia, In...	OMIM:619057
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Frequent falls, Exertional dyspnea	ORPHA:254361
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Patent foram...	OMIM:616867
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronc...	OMIM:620233
Congenital Myopathy 21 With Early Respiratory Failure	Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intra...	OMIM:620326
Hereditary Neuropathy With Liability To Pressure Palsies	Respiratory insufficiency, Paresthesia, Vocal cord paralysis, Scoliosis	ORPHA:640
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory...	OMIM:614399
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Crackles, Cardiomegaly, Nodular pattern on pulmonary HRCT, Dyspnea, Diffuse alveola...	ORPHA:99931
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:611722
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li...	ORPHA:3032
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Chylop...	ORPHA:2414
Rabies	Cerebral palsy, Anorexia, Recurrent pharyngitis, Paresthesia, Attention deficit hyperactivity dis...	ORPHA:770
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R...	ORPHA:240103
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	OMIM:211530
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Spastic paraplegia, Atrial septal defect, Acrocyanosis	ORPHA:896
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Spastic tetraplegia, Hypertonia, Ataxia, Pulmonary hypoplasia	OMIM:618174
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Vertebral segmentation defect, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Re...	OMIM:607625
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory ...	OMIM:616733
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615524
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary...	ORPHA:36238
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Respiratory failure, Ataxia, Dysphagia	OMIM:618637
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:613869
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Pontocerebellar Hypoplasia, Type 1C	Spastic tetraparesis, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Deat...	OMIM:616081
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Ventricular septal defect, Apnea, Spasticity, Respiratory failure, Dystonia, Hy...	OMIM:616277
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, Scol...	OMIM:611890
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Ataxia, Poor motor coordination...	ORPHA:363400
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Hypertonia, Myoclonus, Dysphagia, Spasticity	OMIM:225753
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Dysphagia, Neonatal death, Pul...	OMIM:619751
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Upper limb spas...	OMIM:611225
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Hypertonia, Myoclonus, Cyanotic episode	OMIM:610992
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu...	ORPHA:79127
Brain-Lung-Thyroid Syndrome	Respiratory distress, Chorea, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, ...	ORPHA:209905
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Platyspondyly, Pulmona...	ORPHA:2655
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cardiorespiratory arrest, P...	ORPHA:93296
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Death in infancy, Ventricular septal defect, Kyphosis, Abnormal form of the...	ORPHA:1354
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Hepatomegaly, Cardiomegaly, Atelectasi...	OMIM:618278
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:1832
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ...	OMIM:615113
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis	ORPHA:796
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Abnormal heart morphology, Hypoxemia, Pulmo...	ORPHA:2847
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C...	OMIM:613490
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Respiratory insufficiency, Pulmonary hypoplasia, Scoliosis	OMIM:255320
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Tonne-Kalscheuer Syndrome	Aggressive behavior, Tremor, Abnormal heart morphology, Self-injurious behavior, Pulmonary hypopl...	OMIM:300978
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Dyspnea, Hemothorax...	ORPHA:199241
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Avian Influenza	Respiratory distress, Elevated hepatic transaminase, Miscarriage, Pneumonia, Productive cough, Gr...	ORPHA:454836
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Recurrent acute respirato...	OMIM:620011
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Generalized dystonia, Ataxia, Chorea, Spasticity, Abnormal heart morphology, Respiratory failure,...	ORPHA:70472
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Tricuspid Atresia	Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar...	ORPHA:1209
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Hypertonia, Dystonia, Intrauterine growth retardation, Hepa...	ORPHA:26792
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Cyanosis, Cardiomegaly, Pericar...	ORPHA:555874
Macular Dystrophy, Dominant Cystoid	Cystoid macular edema, Edema	OMIM:153880
Ceroid Lipofuscinosis, Neuronal, 10	Ataxia, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity	OMIM:610127
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Biconvex vertebral bodies, Death in infan...	OMIM:184260
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Opisthotonus, Hepatospleno...	OMIM:608013
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Atypical Rett Syndrome	Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Involuntary movements, Impaired ...	ORPHA:3095
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Absent outer dynein ar...	OMIM:244400
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Nipah Virus Disease	Respiratory distress, Anorexia, Tremor, Recurrent pharyngitis, Myoclonus, Cough	ORPHA:99825
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Hepatomegaly, Ataxia, Tachypnea, Dilated cardiomyopathy, ...	OMIM:614299
Scimitar Syndrome	Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal...	ORPHA:185
Hereditary Methemoglobinemia	Cyanosis, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Exertional dyspnea	ORPHA:621
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif...	OMIM:619611
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Neuralgic Amyotrophy	Acrocyanosis, Paresthesia, Respiratory insufficiency	ORPHA:2901
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Hyperactivity, Recurrent respiratory infections	ORPHA:85288
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Abnormal repetitive mannerisms	OMIM:616341
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Hyperekplexia 4	Respiratory failure, Hypertonia, Myoclonus, Kyphoscoliosis	OMIM:618011
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinso...	ORPHA:240085
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Involuntary movements, Tongue fasciculations, Respiratory insufficiency	ORPHA:238329
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Kyphoscoliosis, Spastic paraplegia, Spastic tetraplegia, Spasticity	OMIM:617977
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Stridor...	ORPHA:142
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Dysphagia	OMIM:615348
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Dysphagia, Bradykine...	ORPHA:98755
Farber Disease	Respiratory distress, Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaund...	ORPHA:333
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure	OMIM:313420
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Lethal Congenital Contracture Syndrome 1	Neonatal death, Widening of cervical spinal canal, Pulmonary hypoplasia	OMIM:253310
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Scedosporiosis	Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst...	ORPHA:449280
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Respirat...	OMIM:609981
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Pneumothorax, Abnormal pyramidal sign, Spasticity, Opisthotonus, C...	ORPHA:445038
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hepatomegaly, Hyperlordosis, Cardiomegaly, Respiratory insuffici...	ORPHA:365
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Torticollis, Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscolio...	ORPHA:536467
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Respiratory failure, Scoliosis, Frequent falls	ORPHA:75840
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Respiratory fai...	OMIM:616505
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Choki...	ORPHA:137914
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Vocal cord paresis, Cyanosis, Ventricular...	ORPHA:1199
Porphyria, Acute Hepatic	Respiratory paralysis, Paresthesia, Paralysis	OMIM:612740
Alg3-Cdg	Spastic tetraparesis, Cardiomyopathy, Hypertonia, Pulmonary hypoplasia, Decreased liver function,...	ORPHA:79321
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Dysphagia, ...	OMIM:619708
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin ...	OMIM:151210
Lethal Congenital Contracture Syndrome 8	Death in infancy, Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment, Neo...	OMIM:616287
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Microphthalmia, Iris ...	ORPHA:231736
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic...	OMIM:601612
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Dilated cardiomyopathy, Respiratory insuffi...	OMIM:300718
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis	ORPHA:91130
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency	ORPHA:3346
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Poor gross motor coordination, Respiratory insufficiency, Respira...	ORPHA:370968
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Absence Of The Pulmonary Artery	Orthopnea, Recurrent respiratory infections, Cyanosis, Abnormal pulmonary thoracic imaging findin...	ORPHA:980
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa...	OMIM:312170
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign, Impaired vibration ...	OMIM:614409
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair...	ORPHA:99947
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea...	ORPHA:210136
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postur...	ORPHA:98805
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Hyperlordosis, Atelectasis, Respiratory insufficiency, Dysphagia, Cardiomyopathy...	ORPHA:258
Nephronophthisis 2	Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis, Scoliosis, Distal sensory impairment	OMIM:605285
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevat...	OMIM:619386
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Recurrent respiratory infections, Cyanosis, Ataxia, Sudden episod...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Recurrent respiratory infections, Cyanosis, Ataxia, Sudden episod...	ORPHA:98914
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure	ORPHA:890
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Ventricular septal defect, Parachute mitral va...	OMIM:618316
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Abnormal respiratory ...	ORPHA:60033
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl...	OMIM:234810
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor...	ORPHA:860
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip...	OMIM:231680
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Dextrocardia,...	OMIM:606763
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Microphthalmia, Syndromic 9	Ventricular septal defect, Agenesis of pulmonary vessels, Hypoplastic left atrium, Alveolar capil...	OMIM:601186
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Kyphosis, Recurrent respiratory infections, Scoliosis	ORPHA:1548
Leigh Syndrome	Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Dystonia, Spasti...	OMIM:256000
Gillessen-Kaesbach-Nishimura Syndrome	Short neck, Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Pulmonary hyp...	OMIM:263210
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Distal sensory impairment	OMIM:617087
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Dyspnea, Hemivertebrae, Abnormal form of ...	ORPHA:2759
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Respiratory insufficiency, Pulmonary hypoplasia, Scoliosis	ORPHA:994
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Short neck, Platyspondyly, Pulmonary hypoplasia, Neonatal death, S...	OMIM:187600
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Sclerocornea, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia, Anisospondyly	OMIM:224410
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory def...	ORPHA:98913
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Tremor, Kyphosis, Jaundice, Respiratory insufficiency due...	OMIM:615512
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Sacral dimple, Dextrocardia, Abnormality of the vertebral column, Transposition of the great arte...	OMIM:314390
Mercury Poisoning	Respiratory distress, Anorexia, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, D...	ORPHA:330021
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Atelectasis, Scoliosis, Cough, Generalized abnormality of skin	ORPHA:2314
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Lujo Hemorrhagic Fever	Respiratory distress, Resting tremor, Elevated hepatic transaminase, Crackles, Myocarditis, Nonpr...	ORPHA:319213
Agnathia-Otocephaly Complex	Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Pulmonary hypoplasia...	OMIM:202650
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Spinal rigidity	OMIM:604801
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Scoliosis	ORPHA:101075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S...	OMIM:606612
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia...	OMIM:612387
Myasthenic Syndrome, Congenital, 16	Apnea, Periodic paralysis, Hyperlordosis	OMIM:614198
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Short neck, Cardiomegaly, Pleural effusion, Platyspondyly, Pulmonary h...	OMIM:616897
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomeg...	ORPHA:308552
Congenital Heart Block	Cyanosis, Crackles, Pericardial effusion, Endocardial fibroelastosis, Intrauterine growth retarda...	ORPHA:60041
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Vocal cord paralysis, Dysphagia	OMIM:150260
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Stillbirth, Pulmonary hypoplasia, Short neck	OMIM:236500
Xeroderma Pigmentosum, Complementation Group G	Tremor, Microphthalmia, Cataract	OMIM:278780
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Splenomegaly, Pulmonary hypoplasia, Pulm...	OMIM:608149
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Short neck, Atelectasis, Splenomegaly, Respiratory insuf...	OMIM:269860
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Lower limb spasticity, Babinski sign, Ankle clonus, Respiratory failure, Fasciculations, Tetrapar...	OMIM:613954
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Secundum atrial septal defect, Cardiomyopathy, Pulmonary hypoplasi...	OMIM:616866
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal lung morphology, Abnormal pyramidal sign, Progressive gait ataxia, Abnor...	ORPHA:646
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Spastic tetraplegia, Dystonia, Neonatal death, Intrauterine growth retardation, Hypertr...	OMIM:618237
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L...	ORPHA:319199
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Pulmonary hypoplasia, Hypoplastic heart, Intrauter...	OMIM:312150
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoli...	OMIM:617404
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon...	ORPHA:133
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Elevated circulating aspartate aminotransferase ...	OMIM:245400
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Hepatomegaly, Opisthotonus, Respiratory failure, Intrauterine growth retardatio...	OMIM:610678
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Abnormal respiratory system physiology, Inappropriate laughter...	ORPHA:505652
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Optic nerve hypoplasia, Microcornea, Microphthalmia	OMIM:610125
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia, Abnormal form of the vertebral bodies, Short neck	ORPHA:1486
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue fasciculations, Dysphagia, Fasciculations	OMIM:613435
Episodic Ataxia Type 1	Respiratory distress, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia,...	ORPHA:37612
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Abnormal pyramidal sign, Bruxism, Dysphagia, Ankle clonus, Bradykinesia, Hypert...	OMIM:617435
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Alg1-Cdg	Kyphosis, Abnormal heart morphology, Cardiomyopathy, Respiratory failure, Decreased liver functio...	ORPHA:79327
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Short neck, Cardiom...	OMIM:617022
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, C1-C2 vertebral...	ORPHA:96179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Choreoathetosis, Cardiomyopathy, Dyst...	ORPHA:79312
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Scoliosis, Dystonia	OMIM:616756
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Respiratory insufficiency due ...	OMIM:613561
Benign Familial Infantile Epilepsy	Hypertonia, Limb myoclonus, Cyanosis, Apnea	ORPHA:306
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Scoliosis	ORPHA:101078
Myopathy And Diabetes Mellitus	Impaired vibratory sensation, Respiratory distress, Babinski sign, Progressive cerebellar ataxia,...	ORPHA:2596
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, S...	OMIM:618426
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra...	OMIM:616974
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Microphthalmia, Posterior embryotox...	ORPHA:1473
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Kyphosis, Chorea, Abnor...	ORPHA:500180
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic diplegia, ...	ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 10	Ataxia, Central hypoventilation, Apnea, Dysmetria, Respiratory failure, Dysphagia	OMIM:618233
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia, Dysphagia	ORPHA:171430
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Short neck, Pulmonary hypoplasi...	ORPHA:3309
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Dystonia, Pa...	ORPHA:289916
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, Limb hypertonia	OMIM:620306
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Pulmonary hypoplasia, Hypoplastic heart, Intrauter...	OMIM:253290
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Respiratory fail...	OMIM:605711
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia...	OMIM:613177
Folinic Acid-Responsive Seizures	Respiratory distress, Ataxia, Apnea, Spastic tetraparesis, Chorea, Hypertonia, Dystonia	ORPHA:79097
Charcot-Marie-Tooth Disease Type 4A	Neuropathic spinal arthropathy, Impaired distal proprioception, Impaired pain sensation, Impaired...	ORPHA:99948
Achondroplasia	Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Lumbar ky...	OMIM:100800
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Snakebite Envenomation	Epistaxis, Paralysis, Angioedema, Erythema, Neuromuscular dysphagia, Respiratory failure, Pseudob...	ORPHA:449285
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Paralysis, Dysphagia, Dystonia	OMIM:300857
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis, Distal sensory impairment	OMIM:613710
Meckel Syndrome 14	Cyanosis, Short neck, Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulmonary hypopla...	OMIM:619879
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Cataract, Corneal opacity, Optic atrophy, Microcornea, Retinal ...	ORPHA:899
Trisomy 13	Cataract, Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris coloboma	ORPHA:3378
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Short neck, Respiratory insufficiency, Abnormal heart morphology, Pulmonary hypoplas...	ORPHA:1865
Pallister-Hall-Like Syndrome	Death in infancy, Pulmonary hypoplasia	OMIM:241800
Meacham Syndrome	Accessory spleen, Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardi...	OMIM:608978
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Cardiomyopathy, Scoliosis, ...	ORPHA:86812
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Aortopulmonary window, Hyp...	ORPHA:99050
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Elevated hepatic transamin...	OMIM:615042
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Abnormali...	ORPHA:254864
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis...	OMIM:620249
Complete Atrioventricular Septal Defect	Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricula...	ORPHA:1329
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Joubert Syndrome 21	Ataxia, Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Oculo...	OMIM:615636
Pulmonary Arteriovenous Malformation	Cyanosis, Liver abscess, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Bacteria...	ORPHA:2038
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Dysphagia, Opisthotonus, Death in chi...	OMIM:619847
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
White Sponge Nevus 2	Edema	OMIM:615785
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Ataxia, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Gait ataxia, Choreoa...	OMIM:619580
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper ...	OMIM:614898
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Abnormal heart morphology, Respiratory failure, Abnormality of the ver...	OMIM:276950
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness, Abnormal heart morphology...	ORPHA:1143
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage,...	ORPHA:183
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Ataxia, Recurrent pneumonia, Cataplexy, Tetra...	ORPHA:496641
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Ataxia, Kyphosis, Respiratory insufficiency, Choreoathetosis, S...	ORPHA:702
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Hepatomegaly, Cardiomyopathy, Respiratory failure, Stillbirth, Tongue fascicula...	OMIM:614922
Marden-Walker Syndrome	Dextrocardia, Short neck, Kyphosis, Pulmonary hypoplasia, Scoliosis, Intrauterine growth retardation	OMIM:248700
Lethal Congenital Contracture Syndrome 7	Oral-pharyngeal dysphagia, Paralysis	OMIM:616286
Dravet Syndrome	Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m...	ORPHA:33069
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up...	ORPHA:51636
Neuromyelitis Optica Spectrum Disorder	Somatic sensory dysfunction, Paraplegia, Respiratory failure	ORPHA:71211
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat...	ORPHA:230800
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ...	OMIM:619574
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Dysesthesia, ...	ORPHA:79138
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness	OMIM:300580
Variegate Porphyria	Cutaneous photosensitivity, Paralysis	OMIM:176200
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Intrauterine growth retardation, Abnormally ossified vertebrae, Pulmonary hypoplasia	ORPHA:3035
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Lymphangioleiomyomatosis	Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax, Chylopericardium, Pulmonary...	ORPHA:538
Truncus Arteriosus	Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Anomalous origin of one pul...	ORPHA:3384
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Gait ataxia, Scoliosis, Att...	OMIM:619383
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Abnormal lung lobation, Anomalous pulmonary venous retur...	ORPHA:1120
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Anencephaly 2	Anophthalmia	OMIM:619452
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Intrauterine growth...	ORPHA:48431
Pontocerebellar Hypoplasia Type 1	Ataxia, Congenital laryngeal stridor, Respiratory failure, Tongue fasciculations, Spasticity	ORPHA:2254
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Abnormal lung lobation, Pulmonary hypoplasia, Scoliosis, Int...	ORPHA:958
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Exertional dyspnea, Cyanosis, Opisthotonus	OMIM:250800
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Kyphosis, Dyspnea, Splenomegaly	ORPHA:87876
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Ataxia, Increased hepatocellular lipid droplets, Respiratory ...	OMIM:220110
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Intermediate Nemaline Myopathy	Cardiomyopathy, Respiratory failure, Dysphagia	ORPHA:171433
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Neuropathic spinal arthropathy, Impaired pain sensation, Impaired distal vibration sensation, Imp...	OMIM:607706
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Neuropathy, Congenital Hypomyelinating, 3	Babinski sign, Respiratory insufficiency, Respiratory failure, Dystonia, Neonatal death, Spasticity	OMIM:618186
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia, Tongue fasciculations, Attention deficit hyperactivity disorder	OMIM:620007
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Caudal Regression Syndrome	Impulsivity, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Pulmonary hypoplasia...	ORPHA:3027
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure, Spasticity	ORPHA:168486
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Hereditary Motor And Sensory Neuropathy, Type Iic	Distal sensory impairment, Stridor, Respiratory failure, Scoliosis, Intercostal muscle weakness, ...	OMIM:606071
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Respiratory distress, Hepatomegaly, Pulmonary edema, Cardiomegaly, Peric...	OMIM:115197
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hepatomegaly, Thoracic scoliosis, Spinal rigidity, Short neck, Pulmonary hy...	OMIM:620369
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hepatomegaly, Abnormal pulmonary valve morphology, Respiratory failure, Abnorma...	ORPHA:1194
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Splenomegaly, Respiratory insufficiency	ORPHA:1046
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Tremor, Splenomegaly, ...	OMIM:608799
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr...	ORPHA:444013
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory failure, Bruising susce...	ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Scoliosis	OMIM:300934
Gm1-Gangliosidosis, Type Iii	Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar ...	OMIM:230650
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Ataxia, Respiratory failure, Dysphagia, Frequent falls	OMIM:620166
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Dysphagia, Respiratory failure, Chylo...	OMIM:620278
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurren...	ORPHA:420741
Tularemia	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat...	ORPHA:3392
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Spastic tetraplegia, Respiratory insufficiency	OMIM:615330
Serkal Syndrome	Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis	ORPHA:139466
Relapsing Polychondritis	Abnormal endocardium morphology, Pericarditis, Myocarditis, Dyspnea, Erythema, Atelectasis, Hepat...	ORPHA:728
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Scoliosis	ORPHA:99014
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, Paraplegia, Restrict...	ORPHA:98897
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Lower limb spasticity, Hyperlordosis, Kyphosis, Babinski sign, Restrictive ventilatory defect, Fa...	OMIM:615290
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs, Hepatomegaly, Splenomegaly	ORPHA:2204
Oromandibular Dystonia	Respiratory distress, Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyper...	ORPHA:93958
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Hypertonia, Myoclonus	OMIM:618240
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Premature graying of hair, Reticular pattern on pulmonary HRCT, Pulmonary fibr...	OMIM:614742
Listeriosis	Back pain, Respiratory distress, Pericarditis, Somatic sensory dysfunction, Ataxia, Pneumonia, Mi...	ORPHA:533
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetraparesis...	OMIM:617186
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Cyanosis, Transient Neonatal	Hepatomegaly, Jaundice, Cyanosis	OMIM:613977
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Aplasia...	ORPHA:2635
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoathetosis, Hyperki...	OMIM:616271
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Respiratory failure, Death in childhood, ...	OMIM:615838
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Death in infancy, Polycystic liver disease, Pancreatic fibrosis...	OMIM:208500
O'Donnell-Luria-Rodan Syndrome	Aggressive behavior, Kyphosis, Self-injurious behavior, Skin-picking, Prolonged neonatal jaundice	OMIM:618512
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Ventricular septal ...	OMIM:214100
Matthew-Wood Syndrome	Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmona...	ORPHA:2470
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Diaphragmatic paralysis, Respiratory failure, Intrauterine growth retardation, Inspira...	OMIM:604320
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma	ORPHA:1104
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Atrial septal defect, ...	OMIM:620327
Stuve-Wiedemann Syndrome 1	Death in infancy, Apnea, Ovoid vertebral bodies, Impaired pain sensation, Short neck, Pulmonary a...	OMIM:601559
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Oculogyric crisis, Involuntary movements, Rigidity, Kyphosis, Babin...	ORPHA:97349
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Spastic paraplegia, Tetrapleg...	ORPHA:254913
Distal Triplication 15Q	Kyphosis, Abnormal heart morphology, Pulmonary hypoplasia, Scoliosis, Atrial septal defect, Intra...	ORPHA:314588
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypopla...	ORPHA:1335
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Dysphagia, Scoliosis, Spinal rigidity	OMIM:618323
Amyotrophic Lateral Sclerosis	Paralysis, Dyspnea, Abnormal respiratory system physiology, Respiratory failure, Agitation, Spast...	ORPHA:803
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Hepatomegaly, Ataxia, Tremor, Dyspnea, Dilated cardiomyopathy, Concentric hyper...	OMIM:610505
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity	OMIM:618201
Tarp Syndrome	Cyanosis, Apnea, Pulmonary hypoplasia, Scoliosis, Atrial septal defect, Athetoid cerebral palsy, ...	ORPHA:2886
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hyperlordosis, Dyspnea, Cardiore...	ORPHA:26791
Atelosteogenesis Type I	Coronal cleft vertebrae, Platyspondyly, Pulmonary hypoplasia, Scoliosis, Absent or minimally ossi...	ORPHA:1190
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Limb myoclonus, Apnea, Clonus	ORPHA:1949
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Chiari Malformation Type Ii	Cyanosis, Ataxia, Opisthotonus, Dysphagia, Inspiratory stridor	OMIM:207950
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase...	ORPHA:90060
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Tibial Muscular Dystrophy	Cardiomyopathy, Respiratory failure, Clumsiness	ORPHA:609
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Cerebral palsy, Kyphosis, Repetitive compulsive behavior, Abnormal heart morpholog...	ORPHA:352490
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ...	OMIM:616749
Q Fever	Respiratory distress, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Abnormal heart v...	ORPHA:781
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hyperactivity, Scoliosis, Bruxism	OMIM:300434
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Crackles, Ground-glass opacification, Respiratory tract i...	ORPHA:79128
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmo...	ORPHA:542323
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Weakness due to upper motor neuron dysfunction, Anorexia, ...	ORPHA:79139
Jeune Syndrome	Aplasia/Hypoplasia of the lungs, Abnormality of the liver, Respiratory insufficiency	ORPHA:474
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira...	OMIM:618291
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Hepatomegaly, Myofiber disarray, Limb dystonia, Hypertrop...	OMIM:604377
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Hepatomegaly, Apnea, Cardiomegaly, Hep...	ORPHA:79330
Peripartum Cardiomyopathy	Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm...	ORPHA:563
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Air bronchogram, Cou...	OMIM:306400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Iris coloboma, Sclerocornea	ORPHA:77298
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Double Outlet Right Ventricle	Cyanosis, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Hypoplastic left h...	ORPHA:3426
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:212140
Zygomycosis	Pericarditis, Sinusitis, Epistaxis, Myocarditis, Atelectasis, Pneumothorax, Peritonitis, Hepatiti...	ORPHA:73263
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Cystic liver disease, Hepatic fibrosis, Pulmonary hypopla...	OMIM:612284
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Involuntary movements, Spastic ...	ORPHA:268943
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona...	OMIM:611812
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Dilated cardiom...	OMIM:310200
Chromosome 1Q41-Q42 Deletion Syndrome	Vertebral segmentation defect, Ventricular septal defect, Pulmonary hypoplasia, Scoliosis	OMIM:612530
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Vertebral segmentation defect, Abnormal aortic valve morphology, P...	ORPHA:2990
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Dilated c...	ORPHA:367
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Pulmonary hypoplasia	ORPHA:85166
Czeizel-Losonci Syndrome	Thoracolumbar scoliosis, Spina bifida occulta, Pulmonary hypoplasia, Dextrocardia	ORPHA:2437
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly	OMIM:614741
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Dysphagia, Atrial septal defect, Intrauterine growth retardation, Hypoplast...	ORPHA:89844
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Platyspondyly, Respiratory f...	OMIM:616482
Microcephaly-Micromelia Syndrome	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia, Short neck	OMIM:251230
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Ventricular septal defect, Neonatal asphyxia, Dyspnea, Wheezing, ...	ORPHA:141127
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira...	OMIM:254090
Nocardiosis	Respiratory distress, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, An...	ORPHA:31204
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Poor...	ORPHA:2072
Thanatophoric Dysplasia Type 2	Kyphosis, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Platyspondyly, Atrial septa...	ORPHA:93274
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Ataxia, Paraplegia, Agitation, Abnormal repetitive mannerisms	ORPHA:927
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Recurrent pneumonia, Abnormal heart...	ORPHA:314655
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyrami...	ORPHA:2131
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Kyphoscoliosis, Hyperlordosis, Hypercapnia, Intercostal muscle ...	ORPHA:2020
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies, Respiratory fai...	ORPHA:3015
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Short neck, Hepatic fibrosis, Pulmonary hypoplasia, Extrapulmo...	OMIM:200995
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Spastic tetraparesis, Short neck, Hypertonia, Myoclonus, Intrauterine growth retardation, Cyanoti...	ORPHA:284417
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Incre...	OMIM:261680
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Clonus, Tremor, Jaundice, Dysphagia, Hypopnea, Respiratory failure, Hype...	OMIM:617248
Ogden Syndrome	Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Short neck, Microvesic...	OMIM:300855
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal motor function, Scol...	OMIM:610743
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia	OMIM:303350
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ...	ORPHA:98905
Alg9-Cdg	Lower limb spasticity, Torticollis, Hepatomegaly, Ventricular septal defect, Short neck, Pericard...	ORPHA:79328
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Malignant Atrophic Papulosis	Pain insensitivity, Telangiectasia of the skin, Abnormal pericardium morphology, Peritonitis, Res...	ORPHA:679
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Abnormal pulmonary valve cusp morphology, Anorexia, Nonproductive cough,...	ORPHA:97287
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Spastic ...	OMIM:619909
Succinic Acidemia	Respiratory distress	OMIM:600335
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Hyperactivity, Paralysis, Aggressive behavior, Parap...	ORPHA:43
Rett Syndrome	Dystonia, Apnea, Intermittent hyperventilation, Kyphosis, Gait apraxia, Bruxism, Gait ataxia, Sco...	OMIM:312750
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal...	ORPHA:99106
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Abnormal pyramidal sign, Sp...	ORPHA:349
Diaphanospondylodysostosis	Respiratory distress, Abnormal vertebral segmentation and fusion, Absent or minimally ossified ve...	ORPHA:66637
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Ventricular septal defect, Epi...	ORPHA:26793
Fetal Akinesia Deformation Sequence 4	Neonatal death, Kyphosis, Prenatal death, Short neck	OMIM:618393
Gaucher Disease Type 1	Hepatomegaly, Anorexia, Pericardial effusion, Kyphosis, Hypersplenism, Splenomegaly, Abnormal pul...	ORPHA:77259
Cockayne Syndrome Type 2	Anophthalmia, Conjunctivitis, Developmental cataract	ORPHA:90322
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,...	OMIM:253000
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Asp...	OMIM:619167
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Gait ataxia	OMIM:612075
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Microphthalmia, Iri...	OMIM:212550
Ethylene Glycol Poisoning	Cyanosis, Ataxia, Tachypnea, Episodic respiratory distress, Slurred speech, Addictive alcohol use...	ORPHA:31826
Tetanus	Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Dysphagia, Spasticit...	ORPHA:3299
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections, Elevated hepatic transaminase, Hepatomega...	ORPHA:329178
Goodpasture Syndrome	Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO...	OMIM:233450
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Aspiration pneumonia, Ataxia...	ORPHA:354
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Congenital Fibrinogen Deficiency	Cyanosis, Splenic rupture, Opisthotonus, Left ventricular hypertrophy, Bruising susceptibility, S...	ORPHA:335
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyphosis, Babinski sign...	OMIM:128100
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Oligozoospermia	ORPHA:3000
Foodborne Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:228371
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Mild intrauterine growth retardation, Abnormal cardiac septum morphology, Single ventri...	OMIM:308050
Genitopatellar Syndrome	Atrial septal defect, Apnea, Pulmonary hypoplasia	ORPHA:85201
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Hepatomegaly, Apn...	OMIM:608836
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Vocal cord paralysis	OMIM:607641
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal def...	ORPHA:439
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary window, Co...	OMIM:620025
Infantile Krabbe Disease	Respiratory distress, Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Respir...	ORPHA:206436
Greenberg Dysplasia	Hepatomegaly, Punctate vertebral calcifications, Abnormal lung lobation, Hepatic calcification, H...	OMIM:215140
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia	ORPHA:250999
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Tremor, Choreoathetosis, Pulmonary hypoplasia, Atrial septal defect, Spasticity	OMIM:614080
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia	OMIM:145420
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Pain insensitivity, Restlessness, Hepatom...	OMIM:615273
Leigh Syndrome	Ventricular septal defect, Ataxia, Involuntary movements, Chorea, Spastic diplegia, Spasticity, D...	ORPHA:506
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency, Tongue fasciculations, Kyphoscoliosis	ORPHA:1145
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Cholelithiasis, Short neck, Atele...	ORPHA:567
Alpha-Mannosidosis	Recurrent respiratory infections, Hepatomegaly, Short neck, Kyphosis, Splenomegaly, Scoliosis, Ge...	ORPHA:61
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Cough, Angioedema, Dilated cardiomyopathy,...	ORPHA:3260
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g...	OMIM:261740
Cockayne Syndrome Type 1	Anophthalmia, Cataract, Tremor, Optic atrophy, Pigmentary retinopathy, Conjunctivitis	ORPHA:90321
Abetalipoproteinemia	Impaired vibratory sensation, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Kyphoscoliosis...	ORPHA:14
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia, Dysphagia	OMIM:617301
Encephalopathy, Ethylmalonic	Death in infancy, Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Acrocyanos...	OMIM:602473
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Odontochondrodysplasia	Respiratory distress, Death in infancy, Platyspondyly, Scoliosis	ORPHA:166272
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Cyanosis, Opisthotonus, Hypertonia, Pulmonic stenosis, Atrial septal defect, Do...	ORPHA:3304
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Sandestig-Stefanova Syndrome	Short neck, Muscular ventricular septal defect, Respiratory failure, Perimembranous ventricular s...	OMIM:618804
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Frequent falls, Nocturnal hypoventilation	OMIM:603689
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A...	ORPHA:99104
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Malaria	Respiratory distress	ORPHA:673
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation, Cyanosis	OMIM:619793
Spondylodysplastic Ehlers-Danlos Syndrome	Beaking of vertebral bodies, Prominent scalp veins, Congenital kyphoscoliosis, Abnormal heart val...	ORPHA:536471
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Abnormal heart morphology	ORPHA:1867
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hypoesthesia, Vocal cord paralysis, Hand paresthesia	OMIM:162500
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular nec...	OMIM:256810
Arterial Tortuosity Syndrome	Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Myocarditis, Dyspn...	ORPHA:3342
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Ataxia, Kyphosis, Fasciculations, Scoliosis, Dystonia, Spasticity, Progres...	ORPHA:464282
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Poliomyelitis	Respiratory failure requiring assisted ventilation, Anorexia, Paralysis, Paraparesis, Respiratory...	ORPHA:2912
Double Outlet Left Ventricle	Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary artery...	ORPHA:3427
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Short neck, Recurrent bronc...	OMIM:617303
Mosaic Trisomy 1	Hepatic agenesis, Thoracic scoliosis, Ventricular septal defect, Pulmonary hypoplasia, Pulmonary ...	ORPHA:1692
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:615486
Criss-Cross Heart	Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition...	ORPHA:1461
Diastrophic Dysplasia	Recurrent respiratory infections, Kyphosis, Abnormal form of the vertebral bodies, Respiratory in...	ORPHA:628
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Acute hepatic failure, Elevated hepatic t...	ORPHA:537
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Aggressive behavior	OMIM:237310
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Aggressive behavior, Pulmonary hypoplasia, Pulmonic stenosis, Left ventricular hyp...	OMIM:619148
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vert...	OMIM:265000
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Aplasia/Hypoplasia of ...	ORPHA:1860
Achondrogenesis, Type Ia	Hypoplastic sacrum, Short neck, Stillbirth, Pulmonary hypoplasia, Unossified vertebral bodies	OMIM:200600
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Respiratory insuffi...	ORPHA:159
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi...	OMIM:135100
Sjögren-Larsson Syndrome	Kyphosis, Erythema, Abnormal pyramidal sign, Spastic diplegia, Urticaria, Scoliosis, Spasticity	ORPHA:816
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Splenomegaly, Erythema, Cardiomyopathy, Ab...	OMIM:225750
Atelosteogenesis Type Ii	Thoracolumbar kyphoscoliosis, Cervical kyphosis, Short neck, Pulmonary hypoplasia, Tracheobroncho...	ORPHA:56304
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness, Hypertonia, Scoliosis, Spasticity	ORPHA:544503
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology	ORPHA:2374
Mosaic Trisomy 16	Ventricular septal defect, Abnormal lung morphology, Abnormal heart morphology, Pulmonary hypopla...	ORPHA:1708
Moebius Syndrome	Respiratory distress, Short neck, Poor coordination, Clumsiness, Dysdiadochokinesis, Dysphagia	OMIM:157900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Splenomegaly, Fused cervical vertebrae, Pulmonary fibrosis	OMIM:612852
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma	OMIM:601794
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:86822
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:363705
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Respiratory failure, Ataxia, Titubation	ORPHA:280210
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Acrocyanosis, Truncal ataxia, Intention tremor	OMIM:614407
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, ...	ORPHA:88644
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Boomerang Dysplasia	Aplasia/Hypoplasia of the lungs, Abnormally ossified vertebrae, Poorly ossified vertebrae	ORPHA:1263
Congenital Myopathy 17	Respiratory tract infection, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:618975
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial mo...	OMIM:613658
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Pulmonary hypoplasia	OMIM:614091
Gaucher Disease, Type I	Hepatomegaly, Epistaxis, Hypersplenism, Dyspnea, Splenomegaly, Vertebral compression fracture, Ab...	OMIM:230800
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Hepatomegaly, Cyanosis, Ataxia, Apnea, Splenomegaly, Babinski sign, Concentric ...	OMIM:252010
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dyspnea, Dilated cardiomyopathy, Respi...	OMIM:615084
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Death in infancy, Hepatomegaly, Abnormal heart valve morphology, Sho...	OMIM:230500
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Dystonia, O...	OMIM:314580
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Pulmonary hypoplasia, Scoliosis, Su...	OMIM:271520
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Cutis marmorata, Short neck, Kyphosis, Abnormality of the gallbladder,...	ORPHA:818
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Clonus, Kyphosis, Atelectasis, Respiratory in...	ORPHA:534
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma	ORPHA:363741
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Aggressive behavior, Tremor, Head-banging, H...	ORPHA:86309
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis	ORPHA:178148
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Distal sensory impairment, Strid...	OMIM:181405
Breath-Holding Spells	Cyanosis	OMIM:607578
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Intrauterine growth retardation	OMIM:615834
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Fontaine Progeroid Syndrome	Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Death in ...	OMIM:612289
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Congenital Enterovirus Infection	Respiratory distress, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, ...	ORPHA:292
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardiomyopathy	OMIM:618234
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnormal pleura morphology, Sho...	ORPHA:2570
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Mitochondrial Trifunctional Protein Deficiency	Babinski sign, Respiratory insufficiency, Cholestasis, Cardiomyopathy, Respiratory failure, Left ...	ORPHA:746
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Parkinsonism, Paralysis	OMIM:105500
Crisponi Syndrome	Death in infancy, Kyphosis, Respiratory insufficiency, Hypertonia, Scoliosis	ORPHA:1545
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:1027
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Spastic tetraplegia, Respiratory failure, Dystonia	ORPHA:3240
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Splenom...	ORPHA:90051
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Pulmonary edema, Hepatomegaly, Left atrial enlargeme...	ORPHA:75249
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Ataxia, Anorexia	ORPHA:79242
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus...	OMIM:618280
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615503
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Schinzel-Giedion Syndrome	Respiratory distress, Sacrococcygeal teratoma, Kyphoscoliosis, Short neck, Recurrent pneumonia, V...	ORPHA:798
Hyperkalemic Periodic Paralysis	Death in infancy, Periodic hyperkalemic paralysis, Death in early adulthood, Cerebral palsy, Resp...	ORPHA:682
Neu-Laxova Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Scoliosis, Opisthotonus	ORPHA:2671
Osteogenesis Imperfecta	Abnormal endocardium morphology, Somatic sensory dysfunction, Neonatal respiratory distress, Atax...	ORPHA:666
Hypoglossia With Situs Inversus	Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, Polysplenia	OMIM:612776
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, Distal sensory impairment, Scoliosis	OMIM:618124
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:2311
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Pulmonary cyst	OMIM:618272
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Hepatic steatosis, Hepatomegaly, Apnea, E...	ORPHA:17
Subaortic Stenosis-Short Stature Syndrome	Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Respirat...	ORPHA:3191
Digeorge Syndrome	Pilonidal sinus, Ventricular septal defect, Atelectasis, Asthma, Chronic pulmonary obstruction, R...	OMIM:188400
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly	OMIM:617809
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Intrauterine growth retardation, Death in childhood	OMIM:615597
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:85317
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, ...	OMIM:253010
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Dilated cardiomyopathy,...	OMIM:607155
Poems Syndrome	Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory d...	ORPHA:2905
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Para...	OMIM:203700
Familial Cervical Artery Dissection	Paresthesia, Paralysis	ORPHA:36382
Achondrogenesis	Aplasia/Hypoplasia of the lungs, Short neck	ORPHA:932
Ck Syndrome	Hyperactivity, Aggressive behavior, Hyperlordosis, Kyphosis, Scoliosis	OMIM:300831
Oligomeganephronia	Secundum atrial septal defect, Polydipsia, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Aortic Arch Interruption	Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aort...	ORPHA:2299
Sialidosis Type 1	Ataxia, Tremor, Kyphosis, Splenomegaly, Slurred speech, Abnormal form of the vertebral bodies, My...	ORPHA:812
Familial Dysautonomia	Abnormal peritoneum morphology, Recurrent respiratory infections, Ataxia, Abnormal pleura morphol...	ORPHA:1764
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio...	ORPHA:805
Buerger Disease	Acrocyanosis, Paresthesia	ORPHA:36258
Corneal Dystrophy, Fuchs Endothelial, 2	Edema	OMIM:610158
Winchester Syndrome	Kyphosis	OMIM:277950
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Biliary hyperplasia, Cleft vertebral arch, Fused cervical ver...	ORPHA:83617
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Microphthalmia	OMIM:206900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:616300
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Ver...	ORPHA:2970
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Respiratory insufficiency, Spasticity, Respiratory failure, Bile d...	OMIM:618329
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the...	OMIM:183900
Vacterl With Hydrocephalus	Absence of the sacrum, Hemivertebrae, Abnormal form of the vertebral bodies, Pulmonary hypoplasia...	ORPHA:3412
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Spasticity, Scoliosis	ORPHA:2429
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Tachypnea, Cough, Hemiplegia, Pu...	ORPHA:137675
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Peritonit...	OMIM:619351
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hypoventilation, Polydipsia, Cyanosis, Central hypoventilation, Im...	ORPHA:293987
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Impaired pain sensation, Impaired distal proprioception, Distal sen...	ORPHA:101097
Fryns Syndrome	Abnormal cardiac septum morphology, Pulmonary hypoplasia, Tetralogy of Fallot, Short neck	ORPHA:2059
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Short neck, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neo...	OMIM:617925
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple...	ORPHA:210122
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Pulmonary hypoplasia, Cardiorespiratory arrest, Intrauterine growth reta...	OMIM:616503
Ethylmalonic Encephalopathy	Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Acrocyanosis, Pete...	ORPHA:51188
Otopalatodigital Syndrome Type 2	Abnormal heart valve morphology, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Scolio...	ORPHA:90652
Microcephalic Primordial Dwarfism, Montreal Type	Prematurely aged appearance, Kyphosis, Premature graying of hair, Vertebral segmentation defect, ...	ORPHA:2617
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Kyphoscoliosis, ...	OMIM:300280
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Lumbar hyperlordosis, Short neck, Abnorma...	ORPHA:505248
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276241
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Ataxia	ORPHA:1861
Achondrogenesis Type 1B	Aplasia/Hypoplasia of the lungs, Short neck	ORPHA:93298
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Dil...	OMIM:609015
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Smith-Lemli-Opitz Syndrome	Death in infancy, Sacral dimple, Hyperactivity, Ventricular septal defect, Hepatomegaly, Aggressi...	OMIM:270400
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:615595
Charcot-Marie-Tooth Disease Type 4B2	Reduced vital capacity, Kyphoscoliosis, Tremor, Vocal cord paralysis, Respiratory insufficiency, ...	ORPHA:99956
Osteogenesis Imperfecta, Type X	Respiratory distress, Thoracic scoliosis, Recurrent pneumonia, Platyspondyly, Scoliosis, Death in...	OMIM:613848
Meier-Gorlin Syndrome 7	Ventricular septal defect, Complete atrioventricular canal defect, Vertebral segmentation defect,...	OMIM:617063
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Distal sensory impairment, Sensory ataxia, Gait ataxia, Scoliosis, Vocal cord paresis	OMIM:614895
Trisomy 1Q	Anophthalmia	ORPHA:261344
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,...	OMIM:617478
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Pancreatic fibrosis, Platyspondyly, Hepatic fibrosis, Pulmonary hypopl...	OMIM:263520
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis, Obsessive-compulsive trait, Dysphagia	OMIM:160900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia, Cataract, Iris coloboma	ORPHA:2250
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Self-injurious behavior, Scoliosis, Intrauterine growth retardation...	ORPHA:238750
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Chro...	OMIM:253220
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Arthrogryposis, Distal, Type 5	Reduced forced expiratory volume in one second, Kyphosis, Restrictive ventilatory defect, Hyperto...	OMIM:108145
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Hypercapnia, Tremor, Reduced forced vital capacity, Respiratory ins...	OMIM:164310
Achondrogenesis Type 1A	Aplasia/Hypoplasia of the lungs, Short neck	ORPHA:93299
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ataxia, Apnea, Dyspnea, Chorea, Dilated cardiomyopathy, Episodic respiratory distre...	ORPHA:255210
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Tetraplegia, Opisthotonus, Hypertonia, Pulmonary arterial hypertension	OMIM:619272
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Elevated hepatic transaminase, Pneumonia, Epistaxis, Dyspnea, Re...	ORPHA:340
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Myopathy, Centronuclear, 2	Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Intrauterin...	OMIM:255200
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Raine Syndrome	Neonatal death, Death in infancy, Pulmonary hypoplasia, Short neck	OMIM:259775
Baralle-Macken Syndrome	Kyphosis, Spasticity, Dystonia	OMIM:619255
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Intrauterine growth retardation	ORPHA:261304
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Chand Syndrome	Atelectasis, Ataxia	ORPHA:1401
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Hemivertebrae, Pulmonary hypoplasia, Abnormal sacral segmentation, Intrauterine g...	OMIM:200980
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Involuntary movements, Diffuse alveolar hemorrhage, Tremor...	ORPHA:90068
Tetrasomy 9P	Absent gallbladder, Pericarditis, Sacral dimple, Hyperactivity, Dextrocardia, Short neck, Jaundic...	ORPHA:3310
Renal Agenesis, Bilateral	Abnormal sacrum morphology, Pulmonary hypoplasia	ORPHA:1848
3C Syndrome	Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Abnormal mitral va...	ORPHA:7
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Miscarriage, Kyphoscoliosis, Short neck, Hepatoblastoma,...	ORPHA:96334
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Pagod Syndrome	Death in infancy, Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia,...	ORPHA:991
Emanuel Syndrome	Recurrent respiratory infections, Sacral dimple, Torticollis, Ventricular septal defect, Truncus ...	OMIM:609029
Charcot-Marie-Tooth Disease Type 4C	Neuropathic spinal arthropathy, Hypoventilation, Impaired pain sensation, Impaired distal vibrati...	ORPHA:99949
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Craniosynostosis, Herrmann-Opitz Type	Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation	ORPHA:2145
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Scoli...	OMIM:223900
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Scoliosis	OMIM:609541
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Myocarditis, Peritonitis...	ORPHA:36234
Cataract 47	Microcornea, Cataract	OMIM:612018
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Hepatomegaly	OMIM:614862
Boutonneuse Fever	Elevated hepatic transaminase, Respiratory failure, Petechiae	ORPHA:83313
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Cardiomyopathy, Respiratory failure, Abnormality of the liver, Hep...	ORPHA:88618
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Clonus, Splenomegaly, Spastic tetraplegia, Hepatosplenomegaly, Respiratory failure,...	OMIM:259720
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Intermittent hyperventilation,...	ORPHA:348
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia, Patent f...	OMIM:607143
Mgat2-Cdg	Respiratory distress, Ventricular septal defect, Kyphosis, Abnormal heart morphology, Scoliosis, ...	ORPHA:79329
Cardiac Valvular Dysplasia 2	Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar...	OMIM:620067
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Megalocornea, Anophthalmia, Corneal dystrophy	ORPHA:1101
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Short neck, Stillbirth, Pulmonary hypoplasi...	OMIM:229850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Ataxia, Scoliosis	OMIM:300861
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Ventricular septal defect, Aggressive behavior, Tremor, Kyphosis, Dysphagia, ...	OMIM:617061
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Short neck, Abnormal repetitive mannerism...	ORPHA:177907
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, R...	ORPHA:2526
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Tongue thrusting, Bruxism, Athetosis, Scoliosis, Dystonia, Aspiration, Spastici...	OMIM:613454
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia...	ORPHA:125
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Apnea, Scoliosis	OMIM:619797
Machado-Joseph Disease Type 3	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Dysp...	ORPHA:276244
Kleefstra Syndrome 2	Kyphosis, Self-injurious behavior, Scoliosis	OMIM:617768
Cardiac Valvular Dysplasia 1	Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon...	OMIM:212093
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Ataxia, Peritonitis, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Axial Mesodermal Dysplasia Spectrum	Short neck, Abnormality of the spleen, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ...	ORPHA:1834
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis, Dysphagia	OMIM:617143
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Respiratory insufficiency due to...	ORPHA:98863
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Respiratory failure, Intrauterine growth retardation, Fragile skin	ORPHA:158687
Thoracoabdominal Syndrome	Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries	OMIM:313850
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis, Restrictive ventilatory defect	OMIM:618484
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p...	ORPHA:88628
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Compulsive behaviors, Scoliosis	OMIM:615761
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Peritonitis, Cirrhos...	ORPHA:1546
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Respiratory insufficiency due to muscle weak...	ORPHA:98853
Meckel Syndrome	Cataract, Anophthalmia, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hypoplasia of the iris,...	ORPHA:564
Pulmonary Hypertension, Primary, 1	Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar...	OMIM:178600
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri...	ORPHA:1596
Renal Agenesis	Ventricular septal defect, Pulmonary hypoplasia	ORPHA:411709
Rift Valley Fever	Back pain, Elevated hepatic transaminase, Miscarriage, Anorexia, Paralysis, Paraparesis, Jaundice...	ORPHA:319251
Hurler-Scheie Syndrome	Recurrent respiratory infections, Hepatomegaly, Kyphosis, Splenomegaly, Scoliosis, Pulmonary arte...	OMIM:607015
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Stt3B-Cdg	Respiratory distress, Intrauterine growth retardation	ORPHA:370924
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardation	OMIM:234250
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Tick-Borne Encephalitis	Back pain, Speech apraxia, Somatic sensory dysfunction, Incoordination, Elevated hepatic transami...	ORPHA:297
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Pulmonary hypoplasia, Short neck	OMIM:616546
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Double outlet right ventricle, Dilated cardiomyopathy, Cyanosis	ORPHA:2326
Kniest Dysplasia	Respiratory distress, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphoscoliosis, ...	OMIM:156550
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Poor wound healing, Kyphosis, Bruising susceptibility, Scoliosis	OMIM:130060
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Tremor, Kyphosis, Gait ataxia	OMIM:300354
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Splenom...	ORPHA:583
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia	ORPHA:2714
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema...	ORPHA:221
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Hepatocellular carcinoma, Paralysis	OMIM:176000
Mucopolysaccharidosis Type 3	Cardiomegaly, Abnormal pyramidal sign, Abnormal form of the vertebral bodies, Hypertonia, Aspirat...	ORPHA:581
Restrictive Dermopathy 1	Prominent superficial blood vessels, Kyphoscoliosis, Stillbirth, Neonatal death, Pulmonary hypopl...	OMIM:275210
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Holoprosencephaly	Anophthalmia, Optic atrophy, Dystonia, Microphthalmia, Iris coloboma	ORPHA:2162
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Neonatal inspiratory stridor, Dysphagia	ORPHA:684
Holzgreve Syndrome	Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnormally ossified vertebrae, ...	ORPHA:2167
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Asthma, Recurrent pneumonia,...	OMIM:309900
Tetraploidy	Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation	ORPHA:3305
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal form of the vertebral bodies	ORPHA:3429
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Jaundice, Respiratory distress, Prolonged neonatal jaundice	OMIM:274150
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Sacral dimple, Scoliosis, Atrial septal d...	OMIM:300968
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Inhalational Botulism	Dyspnea, Paralysis	ORPHA:254504
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Fibular Hemimelia	Anophthalmia, Abnormal anterior chamber morphology	ORPHA:93323
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cardiomyopathy, Pancreatitis, Hepatomegaly	OMIM:251000
Vacterl/Vater Association	Abnormal intervertebral disk morphology, Abnormality of the pancreas, Abnormal sacrum morphology,...	ORPHA:887
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Proboscis Lateralis	Anophthalmia, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea...	ORPHA:141099
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Pneumothorax, Ovoid thoracolumbar vertebrae, Respiratory failur...	ORPHA:3404
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Paresthesia, Dysphagia, Inspi...	ORPHA:100050
Neu-Laxova Syndrome 1	Ventricular septal defect, Short neck, Yellow subcutaneous tissue covered by thin, scaly skin, St...	OMIM:256520
Holt-Oram Syndrome	Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S...	ORPHA:392
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Short neck, Recurrent pneum...	ORPHA:647
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Myasthenia Gravis	Dyspnea, Hepatitis, Paresthesia, Dysphagia, Acrocyanosis	ORPHA:589
Aniridia 3	Aniridia, Cataract	OMIM:617142
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Eisenmenger Syndrome	Respiratory distress, Hepatomegaly, Cyanosis, Ventricular septal defect, Increased pulmonary vasc...	ORPHA:97214
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Death in infancy, Pericarditis, Hepatomegaly, Ataxia, Pericardial ...	OMIM:212065
Congenital Heart Defects And Skeletal Malformations Syndrome	Cutis marmorata, Ventricular septal defect, Repeated pneumothoraces, Kyphosis, Scoliosis, Atrial ...	OMIM:617602
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Abnormality of the spleen, Peritonitis, Pulmonary ...	ORPHA:228123
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia, Iris coloboma	OMIM:605627
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Short neck, Asplenia, Splenomegaly, A...	OMIM:249000
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se...	OMIM:608776
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilata...	OMIM:612863
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Apnea, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, ...	OMIM:617527
Hyperekplexia 2	Exaggerated startle response, Astigmatism	OMIM:614619
Alexander Disease	Ataxia, Clonus, Hyperlordosis, Tremor, Kyphosis, Short neck, Chorea, Abnormal pyramidal sign, Res...	ORPHA:58
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Generalized dystonia, Kyphosis, Scoliosis, Dysphagia	ORPHA:79107
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Lower limb spasticity, Hepatomegaly, Short neck, Microvesicular hepatic steatos...	OMIM:300868
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Elevated hepatic transaminase, Microvesicular hepatic ste...	OMIM:617156
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Abnormal lung lobat...	ORPHA:3097
Jaberi-Elahi Syndrome	Appendicular spasticity, Tremor, Kyphosis, Dysmetria, Gait ataxia, Choreoathetosis, Scoliosis, Dy...	OMIM:617988
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Pulmonary hypoplasia	ORPHA:50945
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Kyphosis, Asthma, Dilated ...	OMIM:203800
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Apnea, Rigidity, Kyphosis, Respiratory insufficiency, Progressive s...	ORPHA:521426
Marinesco-Sjogren Syndrome	Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity	OMIM:248800
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Short neck, Cardiomyopathy, Abnormal cardiac...	OMIM:217980
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Dysphagia, Hypopnea, Restrictive ventilatory defect, Scoliosis,...	OMIM:619482
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Dystonia, Cutis marmorata, Extrapyramidal muscular rigidity, Cardi...	ORPHA:51
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis	OMIM:252605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia, Mic...	OMIM:253800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Kyphosis, Recurrent pneumonia, Scoliosis, Atrial septal defect, Pulmon...	OMIM:616449
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress, Elevated ...	OMIM:260400
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Anorexia, Pericardial effusion, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal pul...	OMIM:181000
Flynn-Aird Syndrome	Kyphosis, Ataxia, Scoliosis, Impaired pain sensation	ORPHA:2047
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Respiratory distress, Thoracic scoliosis, Neonatal respirator...	OMIM:114290
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Congenital Myopathy 15	Reduced forced vital capacity, Vocal cord paralysis	OMIM:620161
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Hypertonia, Short neck	ORPHA:50810
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Tracheomalacia, Vocal cord paralysis, Respiratory insufficiency	OMIM:615490
Bruck Syndrome	Kyphosis, Platyspondyly, Respiratory insufficiency, Scoliosis	ORPHA:2771
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Sclerocornea, Retinal dysplas...	ORPHA:2556
Pitt-Hopkins Syndrome	Ataxia, Short neck, Aggressive behavior, Gait ataxia, Self-injurious behavior, Scoliosis, Acrocya...	ORPHA:2896
Myopathic Ehlers-Danlos Syndrome	Poor wound healing, Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:536516
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Respiratory insufficiency, Scoliosis, Noctu...	ORPHA:171436
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Spinal rigidity, Kyphosis, Respiratory insufficiency, Scoliosis, Neonatal dea...	OMIM:620351
Prader-Willi Syndrome	Hypoventilation, Recurrent respiratory infections, Impaired pain sensation, Kyphosis, Poor gross ...	OMIM:176270
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis, Compulsive beh...	OMIM:618443
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Developmental cataract...	OMIM:300166
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Vocal cord paralysis, Dysphagia, Myoclonus, Scoliosis, Dystonia, Spasticity	ORPHA:500144
Myhre Syndrome	Vertebral fusion, Ventricular septal defect, Ataxia, Short neck, Pericardial effusion, Respirator...	OMIM:139210
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Neonatal respiratory distress, Impaired pain sensation, Kyphosis, Scoliosis, Death ...	OMIM:619005
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat...	ORPHA:79404
Adnp Syndrome	Respiratory distress, Oral-pharyngeal dysphagia, Aggressive behavior, Recurrent upper respiratory...	ORPHA:404448
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Lumbar hyperlordosis, Unilateral lung agenesis, Kyphoscoliosis, Hemivertebrae...	ORPHA:500150
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Aggressive behavior, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticit...	ORPHA:364028
Exudative Vitreoretinopathy 6	Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,...	OMIM:616468
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Hepatic arteriovenous malformation...	OMIM:600376
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Optic atrophy	ORPHA:320406
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the lungs, Atrioventricular canal defect	ORPHA:2549
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia, Short neck	OMIM:208150
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Restrictive ventilatory defect,...	ORPHA:15
19P13.12 Microdeletion Syndrome	Hyperactivity, Ventricular septal defect, Short neck, Kyphosis, Self-injurious behavior, Scoliosi...	ORPHA:254346
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Anorexia, Jaundice, Hepatitis, Cough, Elevated ...	ORPHA:509
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Complete atrioventricular canal defect, Kyphosis, Gait ataxia, Scoli...	ORPHA:476126
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Kyphosis, Elevated circu...	OMIM:615381
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Distal sensory impairment, Positive Romberg sign, Scoliosis, Vocal cord par...	OMIM:601152
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Hemivertebrae, Pulmonary hypoplasia	ORPHA:1112
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Fused...	ORPHA:268882
Methylmalonic Aciduria, Cbla Type	Tremor, Hepatomegaly, Respiratory distress	OMIM:251100
Srd5A3-Cdg	Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology, Ataxia	ORPHA:324737
Schaaf-Yang Syndrome	Impulsivity, Kyphosis, Scoliosis, Skin-picking, Polyphagia	OMIM:615547
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Ventricular septal defect, Progeroid facial appearance, Poor wound h...	OMIM:123700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Dysphagia, Aggressive behavior	ORPHA:488627
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Flushing	ORPHA:94080
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Sacral dimple, Abnormal heart valve morphology, Ataxia, Kyphosi...	ORPHA:280
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Elevated hepatic transaminase, Pneumonia,...	ORPHA:37042
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Abnormal hear...	ORPHA:79282
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Hemivertebrae, Intrauterine growth retardation, Emphysema	OMIM:224690
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Aplasia/Hypoplasia of the lungs, Abnormal lung lobation	ORPHA:2063
Desbuquois Dysplasia 1	Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Int...	OMIM:251450
Van Esch-O'Driscoll Syndrome	Sacral dimple, Ventricular septal defect, Impulsivity, Pulmonary artery stenosis, Pulmonary valve...	OMIM:301030
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Hurler Syndrome	Recurrent respiratory infections, Hepatomegaly, Short neck, Hypoplasia of the odontoid process, K...	OMIM:607014
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Kyphosis, Scoliosis, Dysphagia, Oculomotor apraxia, Spasticity	OMIM:301041
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ...	OMIM:614748
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
8Q24.3 Microdeletion Syndrome	Respiratory distress, Thoracic scoliosis, Hyperactivity, Ventricular septal defect, Short neck, C...	ORPHA:508488
Costello Syndrome	Ventricular septal defect, Tracheomalacia, Short neck, Pneumothorax, Respiratory insufficiency, M...	OMIM:218040
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse	ORPHA:137834
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Abnormal mi...	ORPHA:576
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Scoliosis	ORPHA:2181
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Kyphosis	OMIM:619040
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Aggressive behavior, Kyphosis, Recurrent pneumonia, Scoliosis, Atrial ...	ORPHA:464738
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Attention deficit hyperactivity disorder	OMIM:615433
Spondyloenchondrodysplasia	Pneumonia, Kyphosis, Chorea, Hepatitis, Platyspondyly, Spasticity	ORPHA:1855
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
African Trypanosomiasis	Hepatomegaly, Pericarditis, Somatic sensory dysfunction, Miscarriage, Involuntary movements, Abno...	ORPHA:3385
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	OMIM:616268
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Eosinophilic Fasciitis	Acrocyanosis, Paresthesia	ORPHA:3165
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Dilated cardiomyopathy, Scoliosis, Periodic ...	ORPHA:37553
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia,...	OMIM:278730
Orofaciodigital Syndrome Type 4	Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia, Intrauterine gro...	ORPHA:2753
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Postinfectious Vasculitis	Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Cardiomyopathy, Vasculit...	ORPHA:48435
Glioblastoma	Paralysis	ORPHA:360
Marshall-Smith Syndrome	Thoracic scoliosis, Ventricular septal defect, Apnea, Kyphoscoliosis, Hypoplasia of the odontoid ...	OMIM:602535
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Spasticity, Hemiparesis, Hypertonia, Tricuspid valve prolapse, ...	ORPHA:2396
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Respiratory dis...	ORPHA:2519
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Restrictive Dermopathy	Thoracic kyphoscoliosis, Dextrocardia, Pulmonary hypoplasia, Transposition of the great arteries,...	ORPHA:1662
Rhizomelic Syndrome, Urbach Type	Abnormal form of the vertebral bodies, Kyphosis, Pulmonic stenosis, Short neck	ORPHA:3098
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Distal sensory impairment, Dysphagia, Aspiratio...	ORPHA:600
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Oral-pharyngeal dysphagia, Prominent protrud...	OMIM:300966
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Recurrent pneumonia, Scoliosis, Hypoventilation	OMIM:618493
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, Babinski sign, Spast...	ORPHA:171629
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Spastic paraparesis, Hyperventilation	ORPHA:79241
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Paralysis	OMIM:242100
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Inappro...	OMIM:618476
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Rubinstein-Taybi Syndrome 1	Respiratory distress, Accessory spleen, Hyperactivity, Incoordination, Ventricular septal defect,...	OMIM:180849
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Impulsivity, Impaired temperature sensation, Kyphosis, Scoliosi...	ORPHA:398069
Gitelman Syndrome	Salt craving, Ataxia, Paralysis, Paresthesia, Polydipsia	OMIM:263800
Tetraamelia Syndrome 1	Asplenia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia	OMIM:273395
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Recurrent respiratory infections, Kyphosis, Scoliosis, Dysphagia, Attentio...	ORPHA:261349
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Kyphosis, Abnormal heart morphology, Compulsive behaviors, Scoliosis, ...	ORPHA:404440
Coffin-Lowry Syndrome	Death in early adulthood, Kyphosis, Abnormal form of the vertebral bodies, Self-injurious behavio...	ORPHA:192
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Acquired Purpura Fulminans	Hepatic failure, Acrocyanosis, Macular purpura	ORPHA:49566
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Abnormally ossified vertebrae, Abnormal lung lobation	ORPHA:3301
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Kyphosis, Asthma, Abnormal temper tantrums, Scoliosis, Attentio...	ORPHA:500055
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect, Respiratory distress	OMIM:610536
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Dysphagia	ORPHA:397744
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Hidrotic ectodermal dysplasia, Scoliosis	ORPHA:1883
Shashi-Pena Syndrome	Kyphosis, Scoliosis, Atrial septal defect, Cervical C2/C3 vertebral fusion, Intrauterine growth r...	OMIM:617190
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Respiratory distress	ORPHA:990
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Genitopalatocardiac Syndrome	Kyphosis, Abnormal mesentery morphology, Abnormality of the gallbladder, Abnormal cardiac septum ...	ORPHA:2075
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Pycnodysostosis	Hyperlordosis, Kyphosis, Hepatosplenomegaly, Stridor, Spondylolysis, Scoliosis, Intrauterine grow...	ORPHA:763
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis	ORPHA:79102
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis, Respiratory insufficiency, Pulmonary hypoplasia, Absent or minimally...	ORPHA:93271
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Clonus, Abnormal curvature of the vertebral column, Hypertonia,...	OMIM:619475
Focal Dermal Hypoplasia	Anophthalmia, Ectopia lentis, Optic atrophy, Aniridia, Microphthalmia, Iris coloboma	OMIM:305600
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Fountain Syndrome	Cutis marmorata, Kyphosis, Erythema, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi...	ORPHA:3219
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Apnea, Aggressive behavior, Vocal cord paralysis, Hyperkinetic mov...	OMIM:617799
Charge Syndrome	Microphthalmia, Anophthalmia, Optic atrophy, Iris coloboma	ORPHA:138
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Penile Agenesis	Atrial septal defect, Bilateral lung agenesis, Ventricular septal defect, Pulmonary hypoplasia	ORPHA:49
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Fraser Syndrome	Death in infancy, Vertebral segmentation defect, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2052
Focal Dermal Hypoplasia	Acute hepatic failure, Telangiectasia of the skin, Ventricular septal defect, Erythema, Aplasia/H...	ORPHA:2092
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Rigidity, Dys...	ORPHA:2636
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Intrauterine growth retardation, Respiratory failure	ORPHA:254528
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Optic atrophy	OMIM:616881
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Genitopatellar Syndrome	Ventricular septal defect, Pulmonary hypoplasia, Scoliosis, Dysphagia, Atrial septal defect	OMIM:606170
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, Scoliosis	ORPHA:98855
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Atelis Syndrome 2	Sacral dimple, Kyphosis, Dyspnea, Dysmetria, Supravalvar pulmonary stenosis, Pulmonic stenosis, A...	OMIM:620185
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Pulmonary embolism, Kyphosis, Hemiplegia/h...	ORPHA:394
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Kyphosis, Mitral valve prolapse, Scoliosis, Pulmonic stenosis	OMIM:609008
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Oral-pharyngea...	ORPHA:273
Stickler Syndrome, Type I	Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr...	OMIM:108300
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Gitelman Syndrome	Respiratory distress, Neoplasm of the pancreas, Salt craving, Paralysis, Pericardial effusion, Pa...	ORPHA:358
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Hepatomegaly	OMIM:251110
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia, Ventricular septal defect	OMIM:169400
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphosc...	OMIM:300967
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Abnormality of the pancreas	ORPHA:1555
15Q24 Microdeletion Syndrome	Kyphosis, Scoliosis, Abnormal heart morphology	ORPHA:94065
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis	OMIM:259420
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Short neck, Tremor, Kyphosis, Aggressive behavior, Scoliosis	ORPHA:85293
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Hyperactivity, Ventricular septal defect, Bicuspid aortic valve,...	OMIM:610443
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:2554
Tetraamelia Syndrome 2	Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Intrauterine growth retardation	ORPHA:3121
Glossopharyngeal Neuralgia	Dysesthesia, Vocal cord paralysis, Abnormality of the cervical spine, Oral-pharyngeal dysphagia	ORPHA:221098
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Schwartz-Jampel Syndrome	Death in infancy, Abnormally ossified vertebrae, Apnea, Short neck, Hyperlordosis, Kyphosis, Spin...	ORPHA:800
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Kyphosis, Facial erythema, Biconcave vertebral bodies, Ecchymosis, Vertebral ...	OMIM:219090
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Abnormal repetitive mannerisms, Ataxia, Scoliosis	ORPHA:2479
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat...	ORPHA:582
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Recurrent respiratory infections, Sacral dimple, Overfriendliness, Bicuspid aorti...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Recurrent respiratory infections, Sacral dimple, Overfriendliness, Bicuspid aorti...	ORPHA:363958
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Scoliosis, Periodic paralysis	OMIM:170390
15Q14 Microdeletion Syndrome	Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis	ORPHA:261190
Cowden Syndrome 5	Kyphosis, Subcutaneous lipoma, Scoliosis, Intention tremor	OMIM:615108
Stüve-Wiedemann Syndrome	Respiratory distress, Sacral dimple, Apnea, Impaired pain sensation, Asthma, Paresthesia, Scolios...	ORPHA:3206
Ramos-Arroyo Syndrome	Atrial septal defect, Self-mutilation, Respiratory distress	ORPHA:1051
Koolen-De Vries Syndrome	Vertebral fusion, Bicuspid aortic valve, Kyphosis, Vertebral segmentation defect, Abnormal cardia...	ORPHA:96169
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
Degcags Syndrome	Oral-pharyngeal dysphagia, Vocal cord paralysis, Premature graying of hair, Atrial septal defect,...	OMIM:619488
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Elevated hepatic transa...	ORPHA:95455
Plague	Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Slurred speech, Endocarditis, Acute i...	ORPHA:707
Charge Syndrome	Anophthalmia, Cataract, Unilateral microphthalmos, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:214800
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Postural tr...	ORPHA:67036
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Periodic paralysis, Splenomeg...	OMIM:276700
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Hutchinson-Gilford Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Prominent superficial blood vessels, Mitral ...	ORPHA:740
47,Xyy Syndrome	Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism	ORPHA:8
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect	OMIM:603387
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Kyphosis, Spondylolysis, Scoliosis, Spondylo...	OMIM:119600
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Intrauterine growth r...	ORPHA:2616
Cowden Syndrome 6	Kyphosis, Subcutaneous lipoma, Scoliosis, Intention tremor	OMIM:615109
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Bruising susceptibility, Agitation, Pancreatitis	OMIM:610475
Microphthalmia With Limb Anomalies	Microphthalmia, Optic atrophy, True anophthalmia	ORPHA:1106
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Lymphedema-Distichiasis Syndrome	Kyphosis, Tetralogy of Fallot, Ventricular septal defect, Chylothorax	OMIM:153400
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Respiratory insufficiency, Scoliosis, T...	ORPHA:140
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Bicuspid aortic valve, Kyphoscoliosis, Aggressive behavior, Spastic diplegi...	OMIM:309800
Branchiooculofacial Syndrome	Anophthalmia, Cataract, Retinal coloboma, Microphthalmia, Iris coloboma	OMIM:113620
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Atax...	ORPHA:64
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperlordosis, Kyphosis, Scoliosis, Bruising susceptibility, Fragile skin	OMIM:617821
Urban-Rogers-Meyer Syndrome	Kyphosis, Short neck	ORPHA:3409
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Abnormal repetitive mannerisms, Scoliosis	ORPHA:261144
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Ventricular septal defect, Hypoplastic right heart, Short neck, Kyphosis, Scoliosi...	OMIM:616894
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Distal Renal Tubular Acidosis	Respiratory insufficiency due to muscle weakness, Polydipsia, Paralysis	ORPHA:18
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Attention deficit hyperactivity disorder	ORPHA:261222
Colchicine Poisoning	Respiratory distress, Myocarditis, Cardiorespiratory arrest	ORPHA:31824
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Hemivertebrae, Perimembranous ventricular se...	OMIM:301040
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Sacral dimple, Death in infancy, Ventricular septal defect, Abn...	ORPHA:1507
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Respiratory distress	OMIM:123790
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Hepatic hemangioma, Petechiae, Purpura	ORPHA:2330
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Kyphosis, Polyphagia	OMIM:300942
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Pallister-Killian Syndrome	Sacral dimple, Ventricular septal defect, Kyphoscoliosis, Short neck, Apneic episodes in infancy,...	OMIM:601803
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Lateral Meningocele Syndrome	Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo...	ORPHA:2789
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Marfan Syndrome	Pulmonary artery dilatation, Mitral valve calcification, Spontaneous pneumothorax, Kyphosis, Mitr...	ORPHA:558
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect	OMIM:613309
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Poor coordination, Nasal flaring, Self-injurious behavior, Attention...	ORPHA:466943
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Aspartylglucosaminuria	Recurrent respiratory infections, Hepatomegaly, Kyphosis, Spasticity, Angiokeratoma corporis diff...	OMIM:208400
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Compulsive behaviors, Scoliosis, Attention deficit hyperactivity disorder, Frequent tem...	OMIM:618050
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Kyphosis, Hemivertebrae,...	OMIM:617140
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Kyphosis, Mitral valve prolapse...	OMIM:616914
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Vocal cord paralysis, Flushing	ORPHA:276621
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Ataxia, Progeroid...	OMIM:133540
Microphthalmia, Syndromic 6	Microcornea, Microphthalmia, Anophthalmia, Sclerocornea	OMIM:607932
Multiple Pterygium-Malignant Hyperthermia Syndrome	Dyspnea, Kyphosis, Scoliosis	ORPHA:2215
Noonan Syndrome 14	Short neck, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy, Brui...	OMIM:619745
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Ventricular septal defect, Kyphosis, Tracheomala...	ORPHA:1393
Trisomy 20P	Incoordination, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentati...	ORPHA:261318
Camurati-Engelmann Disease	Hepatomegaly, Ataxia, Anorexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue distrib...	ORPHA:1328
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Short neck, Respiratory insufficiency, Platyspondyly, Respiratory failure, Stillb...	OMIM:304120
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Splenic cyst	OMIM:618188
Cowden Syndrome 1	Kyphosis, Subcutaneous lipoma, Scoliosis, Intention tremor	OMIM:158350
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Tay-Sachs Disease	Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Laryngeal dystonia	ORPHA:845
Fraser Syndrome 2	Respiratory failure, Short neck	OMIM:617666
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Kyphosis, Dilated cardiomyopathy, Scoliosis, Dysphagia	ORPHA:261250
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Respiratory distress, Cyanosis, Cardiomegaly, Pericardial effusion, Myoc...	ORPHA:51608
Micro Syndrome	Kyphosis, Spasticity, Scoliosis, Intrauterine growth retardation	ORPHA:2510
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Bruising susceptibility, Agitation	OMIM:219080
Lateral Meningocele Syndrome	Vertebral fusion, Ventricular septal defect, Bicuspid aortic valve, Short neck, Kyphosis, Scolios...	OMIM:130720
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis, Intrauterine growth retardation	ORPHA:1005
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Pericardial ef...	ORPHA:536532
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Short...	ORPHA:955
Harrod Syndrome	Kyphosis, Scoliosis, Intrauterine growth retardation	ORPHA:2115
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Optic nerve hypoplasia	OMIM:615574
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len...	OMIM:619539
Doors Syndrome	Respiratory distress, Hemivertebrae, Lumbar scoliosis, Myoclonus, Aspiration pneumonia, Double ou...	ORPHA:79500
Weaver Syndrome	Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, Spasticity, Polyph...	OMIM:277590
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility	ORPHA:99429
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Dysplastic tricuspid valve, Spinal canal s...	ORPHA:1724
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Kyphosis, Abdominal situs inversus, Pulmonic stenosis, Atrio...	OMIM:619123
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Ataxia, Progeroid...	OMIM:216400
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Intrauterine growth retardation	ORPHA:2050
Williams Syndrome	Bicuspid aortic valve, Cardiomegaly, Tremor, Abnormal form of the vertebral bodies, Dysmetria, Ve...	ORPHA:904
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Sacral dimple, Thoracolumbar scoliosis, Cyst of the ductus choledochus, Car...	ORPHA:480880
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Secundum atrial septal defect, Kyphosis, Scoliosis	OMIM:619951
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Lumbar hyperlordosis, Ventricular septal defect, Mitral stenosis, Tricus...	OMIM:143095
Craniofacial Microsomia 1	Ventricular septal defect, Block vertebrae, Hemivertebrae, Pulmonary hypoplasia, Scoliosis, Tetra...	OMIM:164210
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Pulmonic stenosis, Scoliosis, Atrial septal defect, Attentio...	OMIM:618223
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Osteoglophonic Dysplasia	Respiratory distress, Platyspondyly, Short neck	OMIM:166250
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Somatic sensory dysfunction, Elevated hepatic ...	ORPHA:191
Microphthalmia, Lenz Type	Kyphosis, Self-injurious behavior, Scoliosis, Hyperlordosis	ORPHA:568
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Splenomegaly, Aplasia of the epiglottis, Atrioventricular can...	OMIM:617088
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Short neck, Secundum atrial septal defect, Subarterial ventricular septal d...	ORPHA:99646
Cohen Syndrome	Ventricular septal defect, Kyphosis, Mitral valve prolapse, Scoliosis, Intrauterine growth retard...	ORPHA:193
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Vocal cord paralysis, Flushing	ORPHA:29072
1P36 Deletion Syndrome	Hepatic steatosis, Abnormal heart valve morphology, Kyphosis, Hemiplegia/hemiparesis, Dilated car...	ORPHA:1606
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Kyphosis, Splenomegaly, Premature graying of hair, C...	ORPHA:90324
17Q11 Microdeletion Syndrome	Abnormal central motor function, Telangiectasia of the skin, Kyphosis, Abnormal lung morphology, ...	ORPHA:97685
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morphology, Ataxia, Aggressive...	ORPHA:268261
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Bruising susceptibility, Agitation	OMIM:610489
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis, Aggressive behavior	OMIM:619244
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Cono-Spondylar Dysplasia	Kyphosis, Poor coordination, Scoliosis, Short neck	ORPHA:420794
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Kyphosis, Abnormal repetitive mannerisms, Scoliosis, Attention deficit...	ORPHA:464311
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Marden-Walker Syndrome	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Kyphosis, Abnormal anatomic loca...	ORPHA:2461
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Frank-Ter Haar Syndrome	Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr...	OMIM:249420
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis, Mitral valve prolapse	OMIM:177850
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Vocal cord paralysis, Sclerosing cholangitis, Dysp...	ORPHA:64744
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis, Atrial...	ORPHA:251014
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Ataxia, Abnormality of coordin...	ORPHA:79318
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Sacral dimple, Ventricular septal defect, Cutis marmorata, Aggr...	OMIM:135900
Viss Syndrome	Prominent superficial blood vessels, Ventricular septal defect, Coronary sinus enlargement, Kypho...	OMIM:619472
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Ventricular septal defect, Kyphosis, Abnormal repetitive mannerisms, Scoliosis, In...	ORPHA:464306
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Sotos Syndrome	Sacrococcygeal teratoma, Ventricular septal defect, Aggressive behavior, Tremor, Kyphosis, Small ...	ORPHA:821
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormal mitral valve morphology, Kyphosis, Scoliosis, Anorexia	ORPHA:1969
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Williams-Beuren Syndrome	Incoordination, Bicuspid aortic valve, Ventricular septal defect, Kyphoscoliosis, Portal hyperten...	OMIM:194050
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcification, Kyphosis...	OMIM:203500
Mend Syndrome	Sacral dimple, Hyperactivity, Aggressive behavior, Kyphosis, Abnormal heart morphology, Aortic va...	ORPHA:401973
Primary Hyperoxaluria	Elevated hepatic transaminase, Cardiomyopathy, Acrocyanosis, Cutis marmorata	ORPHA:416
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Scoliosis, Tricuspid valv...	ORPHA:287
Monosomy 9Q22.3	Hyperactivity, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column	ORPHA:77301
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Stickler Syndrome	Recurrent respiratory infections, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnorm...	ORPHA:828
Proteus Syndrome	Pulmonary embolism, Kyphosis, Abnormal subcutaneous fat tissue distribution, Splenomegaly, Abnorm...	ORPHA:744
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra...	OMIM:259770
Occipital Horn Syndrome	Kyphosis, Jaundice, Hepatitis, Cholestasis, Platyspondyly, Scoliosis, Dysphagia, Bruising suscept...	ORPHA:198
Shprintzen Omphalocele Syndrome	Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Coffin-Lowry Syndrome	Cutis marmorata, Kyphosis, Lumbar kyphosis, Scoliosis, Acrocyanosis	OMIM:303600
Multiple Endocrine Neoplasia, Type Iib	Flushing, Kyphosis, Scoliosis, Hyperlordosis	OMIM:162300
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Poland Syndrome	Dextrocardia, Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Abnormality of ...	ORPHA:2911
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Asplenia, Vocal cord paralysis, ...	OMIM:164280
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Ectodermal dysplasia	OMIM:609944
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Hepatosplenomegaly	OMIM:259730
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Periodic hypokalemic paresis, Tremor	ORPHA:91347
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Paresthesia, Apnea, Scoliosis	ORPHA:285
Mend Syndrome	Hyperactivity, Sacral dimple, Kyphosis, Hypertonia, Aortic valve stenosis	OMIM:300960
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Bicuspid aortic valve, Short neck, Kyphosis, Biliary cirrhosis, Ch...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Bicuspid aortic valve, Short neck, Kyphosis, Biliary cirrhosis, Ch...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Bicuspid aortic valve, Short neck, Kyphosis, Biliary cirrhosis, Ch...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Bicuspid aortic valve, Short neck, Kyphosis, Biliary cirrhosis, Ch...	ORPHA:881
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Ventricular septal defect, Kyphosis, Biliary t...	OMIM:194190
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Involuntary movements, Myoclonus, Kyphoscoliosis	ORPHA:3063
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis, Gait ataxia	ORPHA:457359
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Kyphosis, Hypertonia, Scoliosis, Short neck	OMIM:619194
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Kyphosis, Erythema, Urticaria, Platyspondyly, Abnormality of th...	ORPHA:2273
Holoprosencephaly 2	Microphthalmia, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Cowden Syndrome	Kyphosis, Ataxia, Scoliosis, Mucosal telangiectasiae	ORPHA:201
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Cdags Syndrome	Kyphosis	OMIM:603116
Neurofibromatosis Type 1	Ataxia, Kyphosis, Paresthesia, Attention deficit hyperactivity disorder, Scoliosis	ORPHA:636
Pineoblastoma	Paralysis	ORPHA:251909
Wrinkly Skin Syndrome	Progeroid facial appearance, Kyphosis, Muscular ventricular septal defect, Neonatal wrinkled skin...	OMIM:278250
Acromegaly	Cerebral palsy, Kyphosis, Spinal canal stenosis, Paresthesia, Hypertrophic cardiomyopathy	ORPHA:963
Somatomammotropinoma	Cerebral palsy, Kyphosis, Spinal canal stenosis, Paresthesia, Hypertrophic cardiomyopathy	ORPHA:314769
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Prematurely aged appearance, Scoliosis	ORPHA:2658
Ramon Syndrome	Kyphosis, Angiokeratoma, Scoliosis, Telangiectasia	OMIM:266270
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Bruising susceptibility	OMIM:304150
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Primrose Syndrome	Restlessness, Ataxia, Aggressive behavior, Kyphosis, Irregular vertebral endplates, Self-injuriou...	OMIM:259050
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop...	ORPHA:3042
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Dystonia	ORPHA:438213
Lowe Oculocerebrorenal Syndrome	Aggressive behavior, Kyphosis, Platyspondyly, Scoliosis, Abnormal repetitive mannerisms	OMIM:309000
Yunis-Varon Syndrome	Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphosis, Cardiomyopathy, As...	OMIM:216340
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106

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 Mapk6

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Mapk6.

No publications found that use IMPC mice or data for Mapk6.

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

MGI Allele	Allele Type	Produced
Mapk6^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Mapk6^em1(IMPC)Mbp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mapk6 MGI:1354946

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E18.5

MicroCT E18.5

Human diseases caused by Mapk6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data