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Gene: Gcn1 MGI:2444248

Gene Summary

Name:

GCN1 activator of EIF2AK4

Synonyms:

GCN1L, G431004K08Rik, Gcn1l1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating glucose level	Gcn1^em1(IMPC)J	HET	Early adult	4.19×10^-09
increased leukocyte cell number	Gcn1^em1(IMPC)J	HET	Early adult	9.22×10^-05
decreased circulating bilirubin level	Gcn1^em1(IMPC)J	HET	Early adult	6.12×10^-07
preweaning lethality, complete penetrance	Gcn1^em1(IMPC)J	HOM	Early adult	0.00

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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.

Eye Morphology

Images Ophthalmoscopy

2 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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Electroretinography 3

Fundus file

12 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Gcn1 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 Gcn1 (0 diseases)
Human diseases predicted to be associated with Gcn1 (813 diseases)

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

The table below shows human diseases predicted to be associated to Gcn1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Microcephaly, Blepharophimosis,...	ORPHA:2570
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha...	ORPHA:1908
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Microcephaly, Micrognathia, Dyspnea, Respiratory failure, Proptosis, Mandib...	ORPHA:1832
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Intrauterine growth retardation, Microcephaly	ORPHA:293
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Microcephaly 5, Primary, Autosomal Recessive	Short stature, Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified gyral pattern,...	OMIM:608716
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Microcephaly, Hypoplasia of the pons, Micrognathia, Partial agenesis of the corpus...	OMIM:616171
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Treacher Collins Syndrome 4	Respiratory failure requiring assisted ventilation, Micrognathia, Microcephaly, Lower eyelid colo...	OMIM:618939
Intellectual Developmental Disorder, Autosomal Dominant 26	Ptosis, Epicanthus, Thick eyebrow, Short stature, Highly arched eyebrow, Hypertelorism, Microceph...	OMIM:615834
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Short stature, Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy...	OMIM:618492
Faundes-Banka Syndrome	Epicanthus, Hypertelorism, Micrognathia, Cryptorchidism, Hypoplasia of the lower eyelids, Deeply ...	OMIM:619376
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, 2-3 toe syndactyly, Cutaneous syndactyly, Narrow palpebral fissure, Hypoplasia...	OMIM:236500
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Tetralogy Of Fallot	Cryptorchidism, Proptosis, Clinodactyly of the 5th finger, Intrauterine growth retardation, Brach...	ORPHA:3303
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Cerebral atrophy, Growth delay, Respiratory ...	OMIM:619057
Microhydranencephaly	Short stature, Microcephaly, Growth delay, Hypoplasia of the brainstem, Proptosis, Cerebellar hyp...	OMIM:605013
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Microcephaly, Respiratory insufficiency due to muscle weakness, Cryptorchidis...	OMIM:611890
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypertelorism, Sparse eyebrow, Hypoplas...	OMIM:167730
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Micrognathia, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hy...	OMIM:225790
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Short stature, Microcephaly, Abnormal digit morphology, Hypotelorism, Deep...	OMIM:268850
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal...	OMIM:611134
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Optic nerve hypoplasia, Hypoplasia of eyelid, Microcephaly, Hydrocephalus, Genu va...	OMIM:619321
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Cerebral dysmyelination, Respiratory insufficiency, Respiratory ...	OMIM:611722
Meckel Syndrome, Type 10	Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Postaxial polydactyly, Postaxia...	OMIM:614175
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Microcephaly, Hypertelorism, Anenc...	ORPHA:1590
Pontocerebellar Hypoplasia Type 10	Highly arched eyebrow, Simplified gyral pattern, Growth delay, Proptosis, Long eyelashes, Abnorma...	ORPHA:411493
Neu-Laxova Syndrome 2	Ablepharon, Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Hy...	OMIM:616038
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Hypertelorism, Bowing of the legs, Atelectasis, Hydrocephalus, Short toe...	OMIM:269860
Chromosome 13Q33-Q34 Deletion Syndrome	Micrognathia, Deeply set eye, Advanced eruption of teeth, Distally placed thumb, Agenesis of corp...	OMIM:619148
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Ground-...	ORPHA:79126
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Hypertelorism, Microcephaly, Micrognathia, Upper eyelid colob...	ORPHA:398156
Cherubism	Broad jaw, Proptosis, Upper airway obstruction, Abnormal mandible morphology	ORPHA:184
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly,...	OMIM:614120
Pontocerebellar Hypoplasia, Type 1C	Cerebellar vermis hypoplasia, Respiratory insufficiency, Respiratory failure, Hypoplasia of the c...	OMIM:616081
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Proptosis, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Intraut...	ORPHA:2370
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po...	OMIM:603194
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Short stature, Highly arched eyebrow, Hypertelorism, Microcephaly, Cryptorchidism, Bi...	ORPHA:352490
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Hypertelorism, Upper eyelid coloboma, Proptosis, Clinodact...	OMIM:619736
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Ablepharon, Short metacarpal, Hypoplasia of eyelid, Toe syndactyly, Hypertelorism...	OMIM:200110
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Cerebral calcification, Short stature, Spina bif...	ORPHA:1393
Hydrolethalus	Absent septum pellucidum, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, Postaxial hand...	ORPHA:2189
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital encephalocele, Orbital cyst, Eyelid coloboma, Hypoplasia of the corpus ca...	OMIM:164180
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Frontofacionasal Dysplasia	Encephalocele, Telecanthus, Short stature, Hypertelorism, Blepharophimosis, Upper eyelid coloboma...	ORPHA:1791
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Waardenburg Syndrome Type 3	Telecanthus, Camptodactyly of finger, Blepharophimosis, Microcephaly, Atelectasis, Abnormal finge...	ORPHA:896
Anencephaly 2	Anencephaly, Short palpebral fissure	OMIM:619452
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c	OMIM:618858
Acrofrontofacionasal Dysostosis	Brachydactyly, Short stature, Camptodactyly of finger, Micromelia, Hypertelorism, Eyelid coloboma...	ORPHA:1784
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Short stature, Microcephaly, Small hand, Cone-shaped epiphyses of the phalanges of the hand, Prop...	ORPHA:85172
Burn-Mckeown Syndrome	Mandibular prognathia, Short stature, Hypertelorism, Micrognathia, Lower eyelid coloboma, 2-3 toe...	OMIM:608572
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia	OMIM:618660
Trisomy 18	Microretrognathia, Epicanthus, Short stature, Camptodactyly of finger, Spina bifida, Microcephaly...	ORPHA:3380
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Hypertelorism, Myelomeningocele, Hydrocephalus, Respiratory insufficiency, Proptos...	ORPHA:1914
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Filippi Syndrome	Microcephaly, Postnatal growth retardation, Cryptorchidism, 2-4 toe syndactyly, Cutaneous syndact...	OMIM:272440
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Agenesis of corpus...	OMIM:256520
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Cerebral atrophy, Respiratory insufficiency, Gro...	OMIM:245400
Schisis Association	Encephalocele, Micromelia, Spina bifida, Microcephaly, Anencephaly	ORPHA:63862
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As...	ORPHA:2902
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency...	ORPHA:93262
Multiple Mitochondrial Dysfunctions Syndrome 3	Microcephaly, Retrognathia, Cerebral atrophy, Respiratory insufficiency, Respiratory failure, Hyp...	OMIM:615330
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arched eyebrow, Retrognathia, ...	OMIM:618804
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Aplastic zygomatic arch, Short stature, Microcephaly, Micrognathia, Hypoplasia of the...	OMIM:616462
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes	OMIM:610582
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re...	OMIM:620326
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Pelvis-Shoulder Dysplasia	Syndactyly, Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhizomelic limb short...	ORPHA:2839
Cousin Syndrome	Micrognathia, Deeply set eye, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelia,...	OMIM:260660
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cutaneous ...	OMIM:612961
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Pontocerebellar Hypoplasia, Type 3	Short stature, Reduced cerebral white matter volume, Hypoplasia of the pons, Cerebral atrophy, Hy...	OMIM:608027
Thanatophoric Dysplasia	Micromelia, Hydrocephalus, Respiratory insufficiency, Proptosis, Pulmonary hypoplasia, Disproport...	ORPHA:2655
Frias Syndrome	Short stature, Hypertelorism, Micrognathia, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:609640
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Anophthalmia Plus Syndrome	Spina bifida, Hypertelorism, Deviation of finger, Eyelid coloboma, Blepharophimosis	ORPHA:1104
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Microcephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Respiratory ...	OMIM:225753
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Severe short stature, Hypertelorism, Tapered finger, Res...	OMIM:313420
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Camptodactyly of finger, Microcephaly, Cryptorchidism, Aplasia/Hypoplasia of th...	ORPHA:1194
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Immunodeficiency 54	Recurrent respiratory infections, Short stature, Microcephaly, Postnatal growth retardation, Resp...	OMIM:609981
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency	OMIM:618328
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Short stature, Hypoplasia of the capital femoral epiphysis	OMIM:600561
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly, Proptosis, Hypertelorism	ORPHA:35099
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Short stature, Hypertelorism, Coxa valga, Hypoplasia of the maxilla, Hydrocephalus, ...	OMIM:109120
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max...	ORPHA:1540
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c	OMIM:606176
Jacobsen Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Brachydactyly, Microcephaly, Hypertelo...	OMIM:147791
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Short Tarsus With Absence Of Lower Eyelashes	Absent lower eyelashes, Hypoplasia of the lower eyelids	OMIM:600269
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Cerebral atrophy, Ptosis	OMIM:618637
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypertelorism, Micrognathia, Cryptorchidism, Hydrocephalus, Proptosis, Long eyelashes, Hypoplasia...	OMIM:618577
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Proptosis, Short stature, Short distal phalanx of finger	ORPHA:2776
Hyperekplexia 4	Cerebral atrophy, Respiratory failure, Talipes equinovarus, Camptodactyly, Umbilical hernia, Addu...	OMIM:618011
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Cryptorchidism, Preaxial hand polydactyly, Anencephal...	ORPHA:887
Frontoocular Syndrome	Epicanthus, Micrognathia, Hypotelorism, Upslanted palpebral fissure, Proptosis, Blepharophimosis,...	OMIM:605321
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Absent septum pellucidum, Blepharophimosis, Growth delay, Eyelid colobom...	ORPHA:3339
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Short distal phalanx of finger, Microcephaly	OMIM:601355
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Oculocerebrocutaneous Syndrome	Finger syndactyly, Hypertelorism, Aplasia/Hypoplasia of the distal phalanges of the toes, Cryptor...	ORPHA:1647
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Epicanthus inversus, Hypotelorism, Agenesis of corpus call...	OMIM:249000
Postaxial Acrofacial Dysostosis	Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia, Ectropion of lo...	ORPHA:246
Hypophosphatasia, Childhood	Carious teeth, Proptosis, Short stature, Bowing of the legs	OMIM:241510
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq...	OMIM:265120
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Ank...	OMIM:263650
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Hypertelorism...	ORPHA:2211
Gorlin-Chaudhry-Moss Syndrome	Short stature, Abnormal eyelid morphology, Hypertelorism, Hypoplasia of the maxilla, Upper eyelid...	ORPHA:2095
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Congenital Muscular Dystrophy With Intellectual Disability	Cerebellar vermis hypoplasia, Microcephaly, Cryptorchidism, Respiratory insufficiency, Respirator...	ORPHA:370968
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Diprosopus	Anencephaly	ORPHA:1681
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Bilateral ptosis, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Microcephaly, Micrognathia, 2-3 toe syndactyly, Respiratory insufficiency, Hand clenc...	OMIM:618186
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Arachnodactyly, Microcephaly, Micr...	ORPHA:2707
Muenke Syndrome	Brachydactyly, Broad hallux, Malar flattening, Hypertelorism, Capitate-hamate fusion, Dental malo...	OMIM:602849
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Proptosis	OMIM:187500
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypertelo...	OMIM:617201
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Short stature, Microcephaly, Partial agenesis of the corpus callosum, Proptosis, Intrauterine gro...	OMIM:618346
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Short foot, Eyelid col...	OMIM:607597
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel...	OMIM:300219
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Microcephaly, Split hand, Respiratory insufficiency, Cerebral atrophy, Respiratory failure...	OMIM:610127
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Hypertelorism, Dental malocclusion, Large hands, Eyelid co...	OMIM:157980
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory...	OMIM:614399
Crouzon Syndrome	Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficiency, Proptosis, Co...	ORPHA:207
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Short stature, Hypertelorism, Dental malocclusion, Femoral...	ORPHA:2563
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Micromelia, Hydrocephalus, Respiratory insufficiency, Aplasia/Hypop...	ORPHA:93274
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre...	ORPHA:254875
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Microcephaly, Split hand, Neuronal loss in the cerebral cor...	ORPHA:168486
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Miscarriage, Micromelia, Microcephaly, Bowing of the legs, C...	ORPHA:1865
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Cerebellar vermis hypoplasia, Femur fracture, Ulnar deviation of the hand, Microgn...	OMIM:618291
Jacobsen Syndrome	Eyelid coloboma, Pachygyria, Agenesis of corpus callosum, Long hallux, Death in infancy, Broad ha...	ORPHA:2308
Shashi-Pena Syndrome	Epicanthus, Short metacarpal, Reduced cerebral white matter volume, Hypertelorism, Highly arched ...	OMIM:617190
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Micrognathia, Short thumb, Proptosis, Short ...	OMIM:618821
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Epicanthus, Brachydactyly, Sparse eyelashes, Camptodactyly of finger, Hypert...	ORPHA:306542
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tri...	OMIM:616367
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Treacher Collins Syndrome 3	Micrognathia, Lower eyelid coloboma, Hypoplasia of the zygomatic bone, Malar flattening, Downslan...	OMIM:248390
Cole-Carpenter Syndrome	Communicating hydrocephalus, Delayed eruption of teeth, Bowing of the long bones, Short stature, ...	ORPHA:2050
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchiectasis, Rec...	OMIM:620233
Ichthyosis, Congenital, Autosomal Recessive 4B	Death in infancy, Proptosis, Short finger, Neonatal death, Ectropion	OMIM:242500
Restrictive Dermopathy 2	Respiratory distress, Microretrognathia, Hypoplastic facial bones, Proptosis, Intrauterine growth...	OMIM:619793
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Ptosis, Finger syndactyly, Short stature, Camptodactyly of finger, Micrognathia, Proptosis, Intra...	ORPHA:1323
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Telecanthus, Ulnar deviation of the hand, Hypertelorism, Microcephaly, Micrognathia, ...	OMIM:263210
Bainbridge-Ropers Syndrome	Micrognathia, Synophrys, Deeply set eye, Contracture of the proximal interphalangeal joint of the...	OMIM:615485
Holoprosencephaly 11	Microcephaly, Synophrys, Hypotelorism, Proptosis, Holoprosencephaly, Agenesis of corpus callosum,...	OMIM:614226
Neu-Laxova Syndrome	Cerebral calcification, Micromelia, Abnormal eyelid morphology, Micrognathia, Pterygium, Pachygyr...	ORPHA:2671
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Microcephaly, Bilateral cryptorchidism, Micrognathia, Hydrocep...	ORPHA:2409
Desbuquois Syndrome	Severe short stature, Camptodactyly of finger, Coxa valga, Abnormal eyelash morphology, Small han...	ORPHA:1425
Kleeblattschaedel	Hydrocephalus, Proptosis	OMIM:148800
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Short stature, Highly arched eyebrow, Proptosis, Long eyelashes, Clino...	OMIM:619451
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Hallux valgus, Short stature, Hypertelori...	OMIM:617180
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma, Hypertelorism	OMIM:613456
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Microcephaly, Respiratory failure, Intrauterine growth retardation, Polymicrogyria	OMIM:610678
Developmental And Epileptic Encephalopathy 48	Microcephaly, Cerebral atrophy, Proptosis, Long eyelashes, Hypoplasia of the corpus callosum, Lon...	OMIM:617276
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Proptosis, Short femora...	ORPHA:157965
Acrocraniofacial Dysostosis	Telecanthus, Short stature, Hypertelorism, Microcephaly, Tapered finger, Short 1st metacarpal, Co...	ORPHA:949
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Thin corpus callosum	OMIM:616277
Frontofacionasal Dysplasia	Telecanthus, Hypertelorism, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebra...	OMIM:229400
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal...	OMIM:166300
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Abnormality of the maxillary sinus, Eyelid coloboma, ...	ORPHA:141099
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Neonatal respiratory distress, Coarse metaphyseal trabecularization, Hypertelorism, Metaphyseal w...	OMIM:618961
Frontonasal Dysplasia 1	Pericallosal lipoma, Epicanthus, Brachydactyly, Hypertelorism, Hypoplasia of the maxilla, Postaxi...	OMIM:136760
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Microcephaly, Hypoplasia of...	OMIM:620157
Tyshchenko Syndrome	Short stature, Cryptorchidism, Proptosis, Hypoplasia of the corpus callosum, Intrauterine growth ...	OMIM:615102
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Marbach-Rustad Progeroid Syndrome	Short stature, Femur fracture, Delayed eruption of primary teeth, Microcephaly, Micrognathia, Gro...	OMIM:619322
Bohring-Opitz Syndrome	Micrognathia, Hypoplasia of the brainstem, Agenesis of corpus callosum, Dandy-Walker malformation...	OMIM:605039
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Pyruvate Dehydrogenase E1-Alpha Deficiency	Microcephaly, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Basal g...	OMIM:312170
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, Atelect...	OMIM:244400
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Hypertelorism, Absent eyelas...	ORPHA:861
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Postaxial hand polydacty...	OMIM:612284
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Cryptorchidism, S...	OMIM:263750
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Rhizomelia, Cerebral dysmyelin...	ORPHA:763
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Short stature, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, ...	OMIM:608154
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum, Sh...	OMIM:614078
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar vermis hypoplasia, Micrognathia, Rhizomelia, Short stature, Hypertelorism, Cryptorchid...	OMIM:611209
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Chromosome 5P13 Duplication Syndrome	Epicanthus, Hypertelorism, Blepharophimosis, Long fingers, Hypotelorism, Upslanted palpebral fiss...	OMIM:613174
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Hypertelorism, Tapered finger, Micrognathia, Partial agenesis of the corpus callosum, Synophrys, ...	OMIM:620250
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Intrauterine growth...	OMIM:604320
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Desbuquois Dysplasia 2	Neonatal respiratory distress, Severe short stature, Epicanthus, Short metacarpal, Monkey wrench ...	OMIM:615777
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Pulmonary...	ORPHA:36238
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Micrognathia, Metaphyseal widening, Arachnodactyly, Repeated pneumothoraces...	ORPHA:536467
Microcephaly 3, Primary, Autosomal Recessive	Short stature, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, G...	OMIM:604804
20Q11.2 Microduplication Syndrome	Epicanthus, Palpebral edema, Microcephaly, Cryptorchidism, Growth delay, Short foot, Proptosis, S...	ORPHA:363659
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o...	ORPHA:99931
19P13.12 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Toe clinodactyly, Sandal gap, Microcephaly, Aplasia/Hypoplasia of ...	ORPHA:254346
Trisomy 12P	Epicanthus, Short stature, Hypertelorism, Micrognathia, Large hands, Proptosis, Clinodactyly of t...	ORPHA:1699
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Sandal gap, Hypertelorism, Micrognathia, Atelectasis, Recurrent pneumonia, Grow...	OMIM:613177
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Cryptorchidism, Cortical dysplasia, Porencephalic cyst, Hyd...	OMIM:613001
Keipert Syndrome	Broad hallux phalanx, Epicanthus, Short stature, Short hallux, Hypertelorism, Aplasia/Hypoplasia ...	ORPHA:2662
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Preaxial hand polydactyly, Po...	OMIM:236680
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Hypotelorism, B...	ORPHA:439822
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Short stature, Hypertelorism, Hypoplasia of the maxilla, Malar ...	ORPHA:261295
Acrofrontofacionasal Dysostosis 2	Syndactyly, Short stature, Broad hallux, Hypertelorism, Microcephaly, Proptosis, Hand polydactyly...	OMIM:239710
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach...	OMIM:263000
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Prominent fingertip pads, Clinodactyl...	OMIM:615873
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Micromelia, Postaxial polydactyly, Hydrocephalus, Anencephaly, Prea...	OMIM:616546
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Hypoplasia of the maxilla, Hydrocephalus, Synophrys, Narrow palpebral fissure, Peri...	OMIM:618302
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Microcephaly, Tapered finger, Cryptorchidism, Hypoplasia ...	ORPHA:85279
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Hypo...	ORPHA:468631
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Micrognathia, Microcephaly, Malar prominence, Proptosis, Ptosis	ORPHA:2522
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Microcephaly, Abnormal cerebral white matter morphology, Proptosis, Talipes equinovarus, Hypoplas...	OMIM:617481
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Telecanthus, Highly arched eyebrow, Hype...	ORPHA:1299
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Short stature, Absent thumb, Unilateral radial aplasia, Hypoplasia of the...	OMIM:614900
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Hypertelorism, Sparse or absent eyelashes, Ap...	ORPHA:1231
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absen...	OMIM:154400
Developmental And Epileptic Encephalopathy 80	Death in infancy, Hypertelorism, Tapered finger, Micrognathia, Growth delay, Abnormal cerebral wh...	OMIM:618580
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Short stature, Microcephaly, Hypoplasia of the maxilla, Upslanted palpebra...	ORPHA:93950
Melnick-Needles Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Craniofaci...	ORPHA:2484
Congenital Myopathy 22A, Classic	Micrognathia, Bilateral ptosis, Synophrys, Respiratory insufficiency, Deeply set eye, Normal pres...	OMIM:620351
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Farber Disease	Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, R...	ORPHA:333
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Abnormal tibia morphology, Anencephaly, Split hand, Aplasia/Hypopla...	ORPHA:1335
Developmental And Epileptic Encephalopathy 75	Hypertelorism, Upslanted palpebral fissure, Proptosis, Secondary microcephaly, Hypoplasia of the ...	OMIM:618437
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Death in infancy, Telecanthus, Severe short stature, Syndactyly, Brachydactyly...	OMIM:615789
Pontocerebellar Hypoplasia Type 1	Hypoplasia of the pons, Congenital laryngeal stridor, Thin corpus callosum, Respiratory failure, ...	ORPHA:2254
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia	OMIM:618856
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Severe short stature, Hyperplasia of the femoral trochant...	OMIM:156530
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Short stature, Hypertelorism, Tapered finger, Cryptorchidism, Hypote...	OMIM:619435
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Micrognathia, Abnormal lung lobation, Short stature, Arachnodactyly, ...	ORPHA:567
Fetal Akinesia Deformation Sequence 1	Micrognathia, Cavum septum pellucidum, Ulnar deviation of the hand or of fingers of the hand, Abs...	OMIM:208150
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Lacrimal duct atresia, Ulnar d...	ORPHA:1529
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Subcortical band heterotopia, Upslanted palp...	OMIM:618737
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Epicanthus, Arachnodactyly, Dyspnea, Resp...	ORPHA:2759
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathia, Metaphyseal widenin...	ORPHA:440354
Muenke Syndrome	Tarsal synostosis, Hypertelorism, Hydrocephalus, Short foot, Proptosis, Short palm, Carpal synost...	ORPHA:53271
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Atelectasis, Respiratory insufficien...	ORPHA:258
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Ogden Syndrome	Microretrognathia, Broad hallux, Postnatal growth retardation, Cryptorchidism, Pulmonary artery s...	ORPHA:276432
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Abnormal cortical gyration, Respiratory failure	OMIM:616867
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Respiratory failure, Increased laxity of fingers, Slender finger, Adducte...	ORPHA:75840
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Tachypnea, Cerebral atrophy, Respiratory failure, Death in childhood, Abnormal periventricular wh...	OMIM:615838
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Umbilical hernia, Proptosis	OMIM:606893
Meckel Syndrome	Encephalocele, Bowing of the long bones, Microcephaly, Hypertelorism, Cryptorchidism, Hydrocephal...	ORPHA:564
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Hypertelorism, Bilateral cryptorchidism, ...	OMIM:617746
Charge Syndrome	Aqueductal stenosis, Abnormal tibia morphology, Eyelid coloboma, Holoprosencephaly, Clinodactyly ...	ORPHA:138
Acrocardiofacial Syndrome	Hallux valgus, Death in infancy, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Hype...	ORPHA:2008
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hypoplas...	ORPHA:397973
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Epicanthus, Hypertelorism, Microcephaly, Micrognathia, Anencepha...	ORPHA:96176
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Microcephaly, Respiratory insufficiency due to muscle weakness, D...	ORPHA:352447
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Epicanthus, Short stature, Broad hallux, Micromelia, Hypertelorism, Postnatal growth ...	OMIM:614800
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Epicanthus, Short stature, Camptodactyly of finger,...	ORPHA:915
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Atelectasis, Deeply set eye, Cough	ORPHA:2314
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Short stature, Proptosis, Aplasia/Hypoplasia of the cerebellum, Spina bifida occulta,...	ORPHA:1185
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Donnai-Barrow Syndrome	Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Proptosis, Umbilical hernia, Downslante...	ORPHA:2143
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Resp...	ORPHA:158687
Cenani-Lenz Syndrome	Ptosis, Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphol...	ORPHA:3258
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Epicanthus, Overlapping toe, Postnatal growth retardation, Large placenta, Retrognathia...	ORPHA:254528
Congenital Myopathy 17	Mandibular prognathia, Telecanthus, Overlapping toe, Tapered finger, Respiratory tract infection,...	OMIM:618975
Dysostosis, Stanescu Type	Bowing of the long bones, Cerebral calcification, Short stature, Abnormal dental enamel morpholog...	ORPHA:1798
Raine Syndrome	Mandibular prognathia, Death in infancy, Bowing of the long bones, Cerebral calcification, Short ...	OMIM:259775
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Tapered finger,...	ORPHA:2215
7Q31 Microdeletion Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Hypertelorism, Postnatal growth retard...	ORPHA:251061
2Q31.1 Microdeletion Syndrome	Micrognathia, Synophrys, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, F...	ORPHA:251014
20Q13.33 Microdeletion Syndrome	Hallux valgus, Epicanthus, Highly arched eyebrow, Hypertelorism, Tapered finger, Abnormal limb bo...	ORPHA:261311
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Pontocerebellar Hypoplasia, Type 10	Reduced cerebral white matter volume, Microcephaly, Highly arched eyebrow, Cryptorchidism, Synoph...	OMIM:615803
Leigh Syndrome	Respiratory insufficiency, Respiratory failure, Focal substantia nigra T2 hyperintensity, Abnorma...	OMIM:256000
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Micrognathia, Hypotelorism, Deeply set eye, Clinodactyly of the 5th finger,...	ORPHA:177907
Cole-Carpenter Syndrome 2	Microretrognathia, Short stature, Hypertelorism, Postnatal growth retardation, Hydrocephalus, Pro...	OMIM:616294
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Epicanthus, Bowing of the long bones, Short stature, Hypertelori...	ORPHA:1225
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Meier-Gorlin Syndrome 4	Short stature, Microcephaly, Micrognathia, Cryptorchidism, Hypoplasia of the maxilla, Patellar ap...	OMIM:613804
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,...	OMIM:123150
Intermediate Nemaline Myopathy	Respiratory failure, Hypertelorism	ORPHA:171433
Distal Deletion 10Q	Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Hypotelorism, Clinodactyly of the 5...	ORPHA:96148
Houge-Janssens Syndrome 3	Epicanthus, Hypertelorism, Microcephaly, Hypoplasia of the brainstem, Proptosis, Hypoplasia of th...	OMIM:618354
Mycophenolate Mofetil Embryopathy	Hypertelorism, Micrognathia, Hydrocephalus, Eyelid coloboma, Foot polydactyly, Short palm, Trache...	ORPHA:268249
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu...	OMIM:615287
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplasia of the radius, Re...	OMIM:617895
Osteoglophonic Dysplasia	Respiratory distress, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruptio...	OMIM:166250
Marshall Syndrome	Cerebral calcification, Short stature, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Micrognat...	ORPHA:560
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Hypertelorism, Sparse eyebrow, Micrognathia, ...	ORPHA:496641
Saul-Wilson Syndrome	Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa valga, Postnatal growth...	OMIM:618150
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Proptosis, Hypertelorism	OMIM:612247
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hydrocephalus, Split hand, Respiratory insuffi...	ORPHA:1860
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Respiratory insufficiency, Re...	OMIM:276950
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal, R...	OMIM:108720
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypertelorism, Respiratory tract infection, Tapered finger, Diffuse white matter abnormalities, L...	OMIM:218000
Fraser Syndrome 3	Micrognathia, Short toe, Hydrocephalus, Abnormal lung lobation, Cutaneous syndactyly, Stillbirth,...	OMIM:617667
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Respiratory failure, Cerebellar hypoplasia, Intrauterine growth retardation, Infe...	OMIM:620327
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Short 3rd toe, Tapered finger, Upslanted palpebral fissure, Deeply set eye, Proptosis, Short 4th toe	OMIM:618707
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Epicanthus, Malar flattening, Hypertelorism, Micrognathia, Cryptorchid...	ORPHA:2789
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Toe syndactyly, Short stature, Microcephaly, Bilateral camptodactyly, Growth delay, Upslanted pal...	OMIM:619234
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Atelosteogenesis Type I	Telecanthus, Short femur, Rhizomelia, Hypertelorism, Micrognathia, Abnormal ossification involvin...	ORPHA:1190
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Short stature, Hypertelorism, Micrognathia, Cryptorchidism, Partial duplication of...	OMIM:616331
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Telecanthus, Bowing of the long bones, Apnea, Arachnodactyly, Campto...	ORPHA:2462
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Prolidase Deficiency	Hypertelorism, Micrognathia, Asthma, Recurrent pneumonia, Proptosis, Chronic lung disease, Ptosis	OMIM:170100
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Arachnodactyly, Long fingers, Hydrocephalus, Deeply set ...	OMIM:616914
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Hypertelorism, Microcephaly, Abnormal eyelash morphology, Sparse...	ORPHA:2399
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hypertelorism, Postnatal growth retardation, Micrognathia, Metaphyseal widening, Triangular shape...	ORPHA:73230
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Short stature, Micrognathia, Hydrocephalus, Proptosis, Shallow orbit...	OMIM:112240
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Ptosis, Restrictive ventilatory defect, Respiratory failure, E...	ORPHA:98913
Glycine Encephalopathy With Normal Serum Glycine	Apnea, Overlapping toe, Microcephaly, Respiratory failure, Long eyelashes, Talipes equinovarus, H...	OMIM:617301
Kniest Dysplasia	Respiratory distress, Rhizomelia, Dumbbell-shaped long bone, Disproportionate short-trunk short s...	OMIM:156550
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Synophrys, Distal widening of metacarpals, Coxa vara, Aspiration...	OMIM:602535
Caffey Disease	Cortical thickening of long bone diaphyses, Proptosis, Respiratory insufficiency	ORPHA:1310
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Cerebellar vermis hypoplasia, Microcephaly, Postnatal growth retardation, Hype...	OMIM:300966
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Hypertelorism, Upslanted palpebral fissure, Respiratory failure, Epicanthus inv...	OMIM:614862
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Arachnodactyly, Dislocated radial head, Microcephaly, Hypertelorism, Cryptorchidism,...	OMIM:182212
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Megalencephaly, Hydrocepha...	OMIM:616482
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Adducted thumb	OMIM:619334
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral white matter atrophy, Myelopathy, Cerebral edema, Leukoencephalopathy, Cervical myelopat...	OMIM:617186
Optic Pathway Glioma	Growth delay, Hydrocephalus, Proptosis	ORPHA:2086
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Focal T2 hyperintense basal ganglia lesion, Respiratory failure, Abnormal cerebral morphology	ORPHA:70472
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Proptosis	ORPHA:90653
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Toe syndactyly, Camptodactyly of finger, Absent eyelashes, Hypoplasia...	ORPHA:920
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Camptodactyly of finger, Micrognathia, Proptosis, Metacarpal osteolysis, Carpal oste...	ORPHA:2774
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Malar flattening, Hypertelorism, Cryptorchidism, Hydrocephalus, Proptosis, ...	ORPHA:1555
Pediatric-Onset Graves Disease	Abnormal eyelid morphology, Microcephaly, Neonatal asphyxia, Proptosis, Intrauterine growth retar...	ORPHA:525731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Microcephaly, Abnormal cerebral white matter morphology, Respiratory failure, Restrictive ventila...	OMIM:606612
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short stature, Large tarsal bones, Micrognathia, Recurrent pneumonia, Flared metaphysis, Prominen...	OMIM:215150
Robinow Syndrome, Autosomal Recessive 2	Short stature, Broad hallux, Sandal gap, Hypertelorism, Micrognathia, Proptosis, Long eyelashes, ...	OMIM:618529
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Short stature, Hypertelorism, C...	OMIM:139210
Fraser Syndrome 1	Encephalocele, Absent eyebrow, Aplasia/Hypoplasia of the thumb, Abnormal cortical gyration, Micro...	OMIM:219000
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Fifth finger...	OMIM:257850
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Epicanthus, Growth delay, Eyelid coloboma, Proptosis, Limbal de...	OMIM:600268
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Hypoplasia of the corpus callosum, Death in ch...	OMIM:614922
Lymphangioleiomyomatosis	Recurrent respiratory infections, Retinal hamartoma, Dyspnea, Hydrocephalus, Pneumothorax, Atelec...	ORPHA:538
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Roberts-Sc Phocomelia Syndrome	Micrognathia, Eyelid coloboma, Shallow orbits, Hyperplasia of the maxilla, Syndactyly, Hypoplasia...	OMIM:268300
Chops Syndrome	Thick eyebrow, Short stature, Microcephaly, Hypertelorism, Cryptorchidism, Synophrys, Anomalous p...	OMIM:616368
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hype...	ORPHA:93259
Distal Xq28 Microduplication Syndrome	Short stature, Epistaxis, Microcephaly, Metatarsus adductus, Hypoplasia of the maxilla, Asthma, R...	ORPHA:293939
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Recurrent respiratory infections, Short stature, Hypertelorism, Reduced forced exp...	OMIM:613385
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Short stature, Hypertelorism, Hypoplasia of the maxilla, Simplified gyral pattern,...	OMIM:614261
Zygomycosis	Ptosis, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious ...	ORPHA:73263
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m...	OMIM:156510
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Short stature, Respiratory failure, Limb undergrowth, Abnormal metap...	ORPHA:1861
Crouzon Syndrome	Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Proptosis, Conjun...	OMIM:123500
Fibrochondrogenesis	Short stature, Camptodactyly of finger, Micromelia, Hypertelorism, Respiratory insufficiency, Abn...	ORPHA:2021
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Campomelic Dysplasia	Bowing of the long bones, Short stature, Hypertelorism, Micrognathia, Respiratory insufficiency, ...	ORPHA:140
Juvenile Nasopharyngeal Angiofibroma	Proptosis, Epistaxis	ORPHA:289596
Oculotrichoanal Syndrome	Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction, Hypertelorism	ORPHA:2717
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Death in infancy, Recurrent respiratory infections, Delayed eruption of te...	ORPHA:534
Manitoba Oculotrichoanal Syndrome	Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos, Hypertelorism	OMIM:248450
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Epicanthus, Telecanthus, Short stature, Palpebral edema...	OMIM:181270
Apert Syndrome	Mandibular prognathia, Cutaneous finger syndactyly, Shallow orbits, Broad distal phalanx of the t...	OMIM:101200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, ...	OMIM:210710
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Leukoencephalopathy, Respiratory failure, Neonatal d...	OMIM:605711
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Arboleda-Tham Syndrome	Respiratory distress, Mandibular prognathia, Bilateral cryptorchidism, Deeply set eye, Conjunctiv...	OMIM:616268
Hennekam-Beemer Syndrome	Short stature, Pneumonia, Camptodactyly of finger, Microcephaly, Micrognathia, Respiratory insuff...	ORPHA:2135
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal dia...	ORPHA:85184
Bohring-Opitz Syndrome	Recurrent respiratory infections, Short stature, Apnea, Microcephaly, Hypertelorism, Micrognathia...	ORPHA:97297
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Hypertelorism, Dyspnea, Hypoplasia of the brainste...	OMIM:615636
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Micromelia, Micrognathia, Dyspnea, Hypoplasia of the ...	ORPHA:3015
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Microcephaly, Cryptorchidism, Cerebral atrophy, Death in childhood, Respiratory fa...	OMIM:619847
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Hypertelorism, Microcephaly, Radial club hand, Proptosis, Holo...	ORPHA:2165
Frontorhiny	Encephalocele, Pericallosal lipoma, Epicanthus, Brachydactyly, Camptodactyly of finger, Hypertelo...	ORPHA:391474
Van Maldergem Syndrome 1	Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Simplified gyral pattern, Cutan...	OMIM:601390
Craniofaciofrontodigital Syndrome	Respiratory distress, Epicanthus, Short stature, Hypertelorism, Dyspnea, Lower eyelid edema, Larg...	ORPHA:363705
Isolated Arrhinia	Respiratory distress, Eyelid coloboma, Hypoplasia of the nasal bone, Hypertelorism	ORPHA:1134
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Holoprosencephaly, Aplasia/Hyp...	ORPHA:818
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Synophrys, Neonatal death, Int...	OMIM:612289
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Hyperextensibility of the finger joints, Short stature, Hypertelorism...	OMIM:115150
Constricting Bands, Congenital	Encephalocele, Syndactyly, Abnormal lung lobation, Eyelid coloboma, Hand polydactyly, Talipes equ...	OMIM:217100
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Epicanthus, Telecanthus, Short stature, Hypertelorism, Micrognathia, Cryptorchidism, ...	OMIM:616894
Autosomal Recessive Robinow Syndrome	Micrognathia, Clinodactyly of the 5th finger, Synostosis of carpal bones, Death in infancy, Finge...	ORPHA:1507
Mandibulofacial Dysostosis-Microcephaly Syndrome	Telecanthus, Epicanthus, Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po...	ORPHA:79113
Osteopetrosis, Autosomal Recessive 5	Short stature, Microcephaly, Micrognathia, Diffuse white matter abnormalities, Hydrocephalus, Fla...	OMIM:259720
Hypomandibular Faciocranial Dysostosis	Death in infancy, Recurrent respiratory infections, Upslanted palpebral fissure, Proptosis, Maxil...	ORPHA:1790
Cornelia De Lange Syndrome 1	Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Clinodactyly of the 5th finger,...	OMIM:122470
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Deeply set eye, In...	ORPHA:96334
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Basal ganglia calcification, Metaphyseal widening, Respiratory insuf...	OMIM:135100
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Toe syndactyly, Short stature, Hypertelorism, Micrognathia, Crypto...	ORPHA:264200
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Lower eyelid coloboma, Hypoplasia of the zygomatic bone, Malar f...	OMIM:613717
Cohen Syndrome	Short metacarpal, Short stature, Microcephaly, Tapered finger, Micrognathia, Hypoplasia of the ma...	OMIM:216550
Xylt1-Cdg	Short stature, Microcephaly, Coxa valga, Synophrys, Flared metaphysis, Growth delay, Proptosis, S...	ORPHA:370930
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Epicanthus, Short metacarpal, Short stature, Abnor...	ORPHA:950
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Recurrent respiratory infections, Brachydactyly, Short stature, Microcepha...	OMIM:300534
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Short metacarpal, Mild postnatal gr...	OMIM:101800
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Clino...	OMIM:170390
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Alg1-Cdg	Progressive microcephaly, Respiratory failure, Cerebral atrophy	ORPHA:79327
Bloom Syndrome	Sparse eyelashes, Pneumonia, Bronchitis, Micrognathia, Respiratory tract infection, Chronic pulmo...	ORPHA:125
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Respiratory failure, Cerebral atrophy	ORPHA:363400
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Clinodactyly of the 5th finger,...	ORPHA:2636
Catel-Manzke Syndrome	Micrognathia, Clinodactyly of the 5th finger, Short metacarpal, Hypertelorism, Cryptorchidism, Sh...	OMIM:616145
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Short palm, Clinodactyly of the 5th ...	OMIM:252100
Rubinstein-Taybi Syndrome 1	Respiratory distress, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Deeply s...	OMIM:180849
Donnai-Barrow Syndrome	Malar flattening, Hypertelorism, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of t...	OMIM:222448
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes,...	ORPHA:228396
Cohen Syndrome	Finger syndactyly, Short stature, Arachnodactyly, Sandal gap, Microcephaly, Abnormal eyelid morph...	ORPHA:193
Orofaciodigital Syndrome Type 4	Micromelia, Micrognathia, Subcortical cerebral atrophy, Aplasia/Hypoplasia of the tibia, Genu var...	ORPHA:2753
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia, Micrognathia, Postnatal growth retardation, 2-3 toe cutaneous syndactyly,...	OMIM:620029
Donohue Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Large hands, Proptosis	OMIM:246200
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino...	OMIM:201000
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Hypertelorism, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Pulmon...	OMIM:235255
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Short stature, Sparse eyelashes, Micrognathia, Sparse eyebrow, Dyspnea, Dental...	OMIM:614008
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Pulmonary hypoplasia	OMIM:313850
Ogden Syndrome	Apnea, Abnormal eyelid morphology, Micrognathia, Deeply set eye, Clinodactyly of the 5th finger, ...	OMIM:300855
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Microcephaly, Neonatal asphyxi...	ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Arachnodactyly, Broad hallux, Hypertelorism, Hypoplasia of the maxilla, Upslanted ...	ORPHA:481152
Otospondylomegaepiphyseal Dysplasia	Short metacarpal, Sandal gap, Micrognathia, Disproportionate short stature, Tibial bowing, Fibula...	ORPHA:1427
Ear-Patella-Short Stature Syndrome	Respiratory distress, Severe short stature, Camptodactyly of finger, Microcephaly, Micrognathia, ...	ORPHA:2554
Van Maldergem Syndrome 2	Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, C...	OMIM:615546
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Unconjugated hyperbili...	OMIM:300908
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation, Leukoencephalopathy	OMIM:618233
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Hypotelorism, Deeply set eye, Agenesis of corpus callosum, Dandy-Walker malformatio...	OMIM:264090
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Micrognathia, Dislocated radial head, Microretrognathia, Rhizomelia, Short stature, Spatulate thu...	OMIM:245600
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Tapered toe, Micrognathia, Synophrys, Leukoencephalopathy, Deeply set eye, ...	OMIM:620369
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the cerebellum, Advanced eruption of teeth, Shor...	ORPHA:192
Fraser Syndrome	Encephalocele, Death in infancy, Finger syndactyly, Toe syndactyly, Microcephaly, Hypertelorism, ...	ORPHA:2052
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Ptosis, Respiratory insufficiency due to muscle weakness, Respir...	ORPHA:365
Wolf-Hirschhorn Syndrome	Recurrent respiratory infections, Epicanthus, Arachnodactyly, Highly arched eyebrow, Microcephaly...	ORPHA:280
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Meier-Gorlin Syndrome 3	Microretrognathia, Short stature, Microcephaly, Aplasia/Hypoplasia of the patella, Cryptorchidism...	OMIM:613803
Fanconi Anemia	Abnormal eyelid morphology, Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinoda...	ORPHA:84
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3107
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat...	ORPHA:209905
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hypermobility, Short p...	OMIM:212720
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory di...	OMIM:608836
Hereditary Motor And Sensory Neuropathy, Type Iic	Short stature, Stridor, Respiratory failure, Hammertoe, Intercostal muscle weakness	OMIM:606071
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5...	ORPHA:3103
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis, Cerebral edema	ORPHA:319213
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Telecanthus, Toe syndactyly, Short stature, Pulmonary artery stenosis, Hypoplasia of the radius, ...	ORPHA:140952
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h...	ORPHA:93258
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Pulmonary hypoplasia, Multiple pterygia, Micrognathia	OMIM:601809
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Short stature, Rocker bottom foot, Microcephal...	ORPHA:163979
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Mandibular prognathia, Arachnodactyly, Hypertelorism, Megalencephaly...	OMIM:617011
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Microcephaly...	ORPHA:178303
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Severe short stature, Hypertelori...	OMIM:231070
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l...	ORPHA:506
Arterial Tortuosity Syndrome	Respiratory distress, Arachnodactyly, Rocker bottom foot, Hypertelorism, Coxa valga, Dyspnea, Pul...	ORPHA:3342
Aarskog-Scott Syndrome	Short palm, Hyperextensibility of the finger joints, Syndactyly, Brachydactyly, Short stature, Hy...	OMIM:305400
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Micrognathia, Metaphyseal widening, Abnormal finger m...	ORPHA:536471
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Short stature, Recurrent pharyngitis, Hydrocephalus, ...	ORPHA:168569
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Leukoencephalopat...	OMIM:220110
Cerebrofacioarticular Syndrome	Syndactyly, Epicanthus, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Hypertelorism,...	ORPHA:314679
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Hypertelorism, Femoral bowing, Proptosis, Hypoplasia of ...	ORPHA:83
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Prolidase Deficiency	Recurrent respiratory infections, Arachnodactyly, Hypertelorism, Micrognathia, Carious teeth, Gen...	ORPHA:742
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia	OMIM:608600
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Overlapping toe, Hypertelorism, Hydrocephalus, Proptosis, Down...	OMIM:123790
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Micrognathia, Hypoplasia of teeth, Growth delay, Proptosis, Osteolytic ...	OMIM:608612
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Abnormal basal ganglia morphology, Cerebral atrophy, Growth delay, Respiratory fail...	ORPHA:445038
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Metaphyseal Chondrodysplasia, Jansen Type	Bowing of the long bones, Severe short stature, Hypertelorism, Micrognathia, Metaphyseal chondrod...	OMIM:156400
Marshall-Smith Syndrome	Bowing of the long bones, Hypertelorism, Proptosis, Cerebellar hypoplasia, Retrognathia	ORPHA:561
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cerebral calcification, Short stature, Microcephaly, Tachypnea, Abnormal pulmonary interstitial m...	OMIM:613658
Blomstrand Lethal Chondrodysplasia	Natal tooth, Telecanthus, Short metacarpal, Rhizomelia, Bowing of the long bones, Micrognathia, F...	ORPHA:50945
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Basal ganglia calcification, Respiratory failure, Tapered finger	OMIM:616505
Premature Aging Syndrome, Penttinen Type	Short palm, Delayed eruption of teeth, Brachydactyly, Hypertelorism, Micrognathia, Hypoplasia of ...	OMIM:601812
S-Adenosylhomocysteine Hydrolase Deficiency	Microcephaly, Hypoplasia of the pons, Growth delay, Respiratory failure, Cerebellar hypoplasia, H...	ORPHA:88618
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Micrognathia, Cryptorchidism, Upper eyelid colobo...	OMIM:154500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,...	ORPHA:555874
Spinocerebellar Ataxia Type 3	Proptosis	ORPHA:98757
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Mandibular prognathia, Arachnodactyly, Megalencephaly, Hypertelorism...	ORPHA:457359
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Rhizomelia, 2-3 toe syndactyly, Long eyelashes, 3-4 finger syndactyly, Cryptophthalmos	OMIM:615877
Meier-Gorlin Syndrome 5	Short stature, Microcephaly, Micrognathia, Cryptorchidism, Irregular femoral epiphysis, Patellar ...	OMIM:613805
Loeys-Dietz Syndrome 5	Short stature, Arachnodactyly, Hypertelorism, Growth delay, Proptosis, Flexion contracture of toe...	OMIM:615582
Fibrochondrogenesis 1	Rhizomelia, Dumbbell-shaped long bone, Small hand, Fibular hypoplasia, Short foot, Stillbirth, Pr...	OMIM:228520
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, Short...	OMIM:224690
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz...	OMIM:180700
Keppen-Lubinsky Syndrome	Microcephaly, Postnatal growth retardation, Dyspnea, Micrognathia, Recurrent pneumonia, Upper air...	ORPHA:435628
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Proptosis, Chemosis, Hypoplasia of the frontal lobes, Cerebral edema	ORPHA:97339
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Long toe, Mandibular prognathia, Short stature, Arachnodactyly, Megalencephaly...	ORPHA:3063
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Neurofibrillary tangles, Respiratory insufficien...	OMIM:607625
Kniest Dysplasia	Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, Bilateral ptosis, Me...	ORPHA:485
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hype...	ORPHA:93260
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Otopalatodigital Syndrome, Type Ii	Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Radial bowing, S...	OMIM:304120
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Hydrocephalus, Ulnar bowing, Humeroradial synostosis, Upper a...	OMIM:207410
Aicardi-Goutières Syndrome	Cerebral calcification, Short stature, Microcephaly, Porencephalic cyst, Multifocal cerebral whit...	ORPHA:51
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Severe short stature, Dislocation of the femoral head, Microcephaly, Micrognathia, Cone-shaped ep...	OMIM:210730
Chand Syndrome	Short fifth metatarsal, Hypertelorism, Atelectasis, Ankyloblepharon, Agenesis of maxillary incisor	ORPHA:1401
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Pelizaeus-Merzbacher Disease, Connatal Form	Short stature, Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory ...	ORPHA:280210
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Bowing of the long bones, Short stature, Flared metaphysis, Advanced ossification of carpal bones...	OMIM:615349
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Telecanthus, Hypertelorism, Hypoplasia of the maxilla, Cryptorchidism, Hyd...	OMIM:601499
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Cryptophthalmos, Ankyloblepharon	OMIM:123570
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Microcephaly, Micrognathia, Preaxial hand polydactyly, Enlarged metaphyses, Dis...	ORPHA:508533
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Insulin-Resistance Syndrome Type B	Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem...	ORPHA:2298
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Distal Deletion 9P	Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Brachydactyly	ORPHA:1642
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Short stature, Abnormal distal phalanx morphology of finger, H...	ORPHA:2673
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Stridor, Paroxysmal dyspnea, Respiratory failure	ORPHA:444013
Melnick-Needles Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Short humerus, Obtuse angle of mandi...	OMIM:309350
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Cinca Syndrome	Growth delay, Proptosis	OMIM:607115
Wolf-Hirschhorn Syndrome	Micrognathia, Periventricular cysts, Cavum septum pellucidum, Agenesis of corpus callosum, Short ...	OMIM:194190
Alg9-Cdg	Microretrognathia, Telecanthus, Ulnar deviation of the hand, Rhizomelia, Hypertelorism, Micrognat...	ORPHA:79328
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Recurrent upper re...	OMIM:620296
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta	OMIM:601216
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood, In...	OMIM:610505
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Growth delay, Respiratory failure, Cerebellar hypoplasia, Subcortical w...	ORPHA:3240
Pseudoaminopterin Syndrome	Epicanthus, Brachydactyly, Short stature, Overlapping toe, Highly arched eyebrow, Hypertelorism, ...	ORPHA:221120
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Simplified gyral pattern, Deeply set eye, Ce...	ORPHA:500150
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Aplasia/Hypopla...	ORPHA:776
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Hypertelorism, Microcephaly, Micrognathia, Emphysem...	OMIM:614437
Necrotizing Enterocolitis	Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocytopenia	ORPHA:391673
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Mercury Poisoning	Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In...	ORPHA:330021
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Whipple Disease	Hydrocephalus, Respiratory insufficiency, Proptosis, Cough, Pleuritis	ORPHA:3452
Degcags Syndrome	Micrognathia, Synophrys, Hypotelorism, Intrauterine growth retardation, Agenesis of corpus callos...	OMIM:619488
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Cryptorchidism, Proptosis, Micrognathia	OMIM:615381
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Hypertelorism, 2-3 finger syndactyly, Dental malocclusion, Fac...	OMIM:269500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thick eyebrow, Brachydactyly, Short stature, Highly arched eyebrow, Microcephaly, Micrognathia, A...	ORPHA:444077
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Apnea, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leukoencephalop...	OMIM:252010
Kagami-Ogata Syndrome	Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Limb undergrowth, Pulmonary hy...	OMIM:608149
Fanconi Anemia, Complementation Group C	Epicanthus, Short stature, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent radius...	OMIM:227645
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal finger morphology, Aplasia of...	ORPHA:3472
Digeorge Syndrome	Short stature, Microcephaly, Hypertelorism, Atelectasis, Asthma, Chronic pulmonary obstruction, R...	OMIM:188400
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Frank-Ter Haar Syndrome	Bowing of the long bones, Hypertelorism, Metatarsus adductus, Micrognathia, Flared metaphysis, De...	OMIM:249420
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up...	ORPHA:51636
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Mandibular prognathia, Pneumonia, Highly arched eyebrow, Hypertelori...	ORPHA:309282
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Short stature, Rocker bottom foot, Tibial torsion, Camptodactyly of finger, Retrog...	OMIM:602782
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure	ORPHA:26791
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Hypopla...	OMIM:108721
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Micrognathia	OMIM:607598
Snakebite Envenomation	Respiratory failure, Respiratory paralysis, Epistaxis	ORPHA:449285
Hyperostosis Cranialis Interna	Proptosis, Osteosclerosis of the base of the skull	OMIM:144755
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Absent septum pellucidum, Microcephaly, Hypertelorism, Micrognathia, Upslanted ...	OMIM:300868
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Nablus Mask-Like Facial Syndrome	Telecanthus, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Hypertelorism, Absent eyelashes...	OMIM:608156
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Mandibular prognathia, Respiratory failure, Chylothorax, ...	OMIM:620278
Erdheim-Chester Disease	Dyspnea, Abnormal pulmonary interstitial morphology, Xanthelasma, Proptosis, Pulmonary fibrosis, ...	ORPHA:35687
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Cerebral atrophy, Growth delay, Hypopnea, Respiratory failure, Secondary...	OMIM:617248
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short stature	ORPHA:93945
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Femur fracture, Hydrocephalus, Recurrent pneumonia, Growth delay, Proptosis, De...	OMIM:612301
Cinca Syndrome	Growth delay, Proptosis, Brachydactyly	ORPHA:1451
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Respiratory failure requiring assisted...	ORPHA:308552
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypertelorism, Bilateral cryptorchidism, Hypopl...	OMIM:211380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalus, Respiratory failure, Hypopla...	OMIM:616538
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Microcephaly, Tapered finger, Hypoplasia of the maxilla, Syno...	OMIM:609460
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypopla...	ORPHA:1248
Fraser Syndrome 2	Respiratory failure, Cryptophthalmos, Cutaneous syndactyly	OMIM:617666
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia, Adducted thumb	ORPHA:171430
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Thick cerebral cortex, Proptosis	ORPHA:352582
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Epicanthus, Proximal radio-ulnar synostosis, Short stature, Bra...	ORPHA:794
Cherubism	Jaw swelling, Dental malocclusion, Lower eyelid retraction, Proptosis, Multiple impacted teeth	OMIM:118400
Axenfeld-Rieger Syndrome	Growth delay, Hypoplasia of the maxilla, Telecanthus, Hypertelorism	ORPHA:782
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short stature, Abnormal fingertip morphology, Micrognathia, Proptosis, Osteolytic defects of the ...	ORPHA:90154
Trichohepatoenteric Syndrome 1	Short stature, Hypertelorism, Avascular necrosis of the capital femoral epiphysis, Large placenta...	OMIM:222470
Fanconi Anemia, Complementation Group D2	Short stature, Microcephaly, Hypertelorism, Cryptorchidism, Hydrocephalus, Short thumb, Prolonged...	OMIM:227646
Noonan Syndrome	Brachydactyly, Short stature, Hypertelorism, Micrognathia, Cryptorchidism, Pulmonary artery steno...	ORPHA:648
Geleophysic Dysplasia 3	Short stature, Pneumonia, Dyspnea, Short foot, Respiratory failure, Limb undergrowth, Brachydactyly	OMIM:617809
Graves Disease, Susceptibility To, 1	Proptosis	OMIM:275000
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Short stature, Bowing of the legs, Aplasia/Hypoplasia of the patella, Cryp...	OMIM:617063
Craniofacial-Deafness-Hand Syndrome	Telecanthus, Ulnar deviation of the hand, Hypertelorism, Hypoplasia of the maxilla, Malar flatten...	OMIM:122880
Meester-Loeys Syndrome	Short stature, Arachnodactyly, Malar flattening, Hypertelorism, Proptosis, Broad distal phalanx o...	OMIM:300989
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Epicanthus, Short stature, Overlapping toe, Highly arche...	OMIM:213980
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Machado-Joseph Disease	Proptosis, Ptosis	OMIM:109150
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Severe short stature, Abnormal nasolacrimal system morphology, Absent septu...	ORPHA:2556
Localized Scleroderma	Abnormality on pulmonary function testing, Dental malocclusion, Abnormal facial skeleton morpholo...	ORPHA:90289
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Proptosis	OMIM:274300
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Short stature, Microcephaly...	ORPHA:647
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Eyelid coloboma, Palpebral edema, Telecanthus	ORPHA:2036
Costello Syndrome	Hyperextensibility of the finger joints, Epicanthus, Short stature, Hypertelorism, Micrognathia, ...	OMIM:218040
Keppen-Lubinsky Syndrome	Microcephaly, Micrognathia, Recurrent pneumonia, Upper airway obstruction, Respiratory insufficie...	OMIM:614098
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T...	ORPHA:1307
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Brachydactyly, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Short toe...	ORPHA:1519
Infantile Krabbe Disease	Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Re...	ORPHA:206436
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia	OMIM:619737
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Short stature, Absent eyelashes, Proptosis, Osteolytic defects of th...	ORPHA:90153
Waldenström Macroglobulinemia	Epistaxis, Respiratory insufficiency, Pulmonary infiltrates, Proptosis, Pleural effusion	ORPHA:33226
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Abnormal lung lobation, Hypoplasia of the ca...	OMIM:215140
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Schinzel-Giedion Syndrome	Respiratory distress, Delayed eruption of teeth, Overlapping fingers, Overlapping toe, Hypertelor...	ORPHA:798
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Severe short stature, Hypoplasia...	ORPHA:2588
Andersen-Tawil Syndrome	Abnormality of dental color, Short stature, Clinodactyly of the 5th toe, Hypertelorism, Micrognat...	ORPHA:37553
Isolated Exencephaly	Abnormal facial skeleton morphology, Proptosis, Holoprosencephaly, Aplasia/Hypoplasia of the cere...	ORPHA:563612
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Epistaxis, Chro...	ORPHA:900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Coxa valga, Postnatal growth retardation, Micrognathia, Hypoplasia of teeth, Growth delay, Propto...	OMIM:248370
Relapsing Polychondritis	Dyspnea, Atelectasis, Conjunctivitis, Cough, Abnormal pattern of respiration	ORPHA:728
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Proptosis, Camptodactyly, Clinodactyly, Chronic lung disease, Ptosis	ORPHA:228426
Kosaki Overgrowth Syndrome	Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:616592
Craniosynostosis 4	Optic nerve hypoplasia, Hypertelorism, Proptosis, Malar flattening, Retrognathia	OMIM:600775
Wyburn-Mason Syndrome	Proptosis, Epistaxis	ORPHA:53719
Ulbright-Hodes Syndrome	Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation...	ORPHA:3404
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Machado-Joseph Disease Type 1	Substantia nigra gliosis, Degeneration of the striatum, Proptosis	ORPHA:276238
Machado-Joseph Disease Type 2	Substantia nigra gliosis, Degeneration of the striatum, Proptosis	ORPHA:276241
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus	ORPHA:676
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Holoprosencephaly 3	Microcephaly, Hypotelorism, Proptosis, Holoprosencephaly, Malar flattening, Cyclopia	OMIM:142945
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Absent eyelashes, Hypoplasia of the maxilla, Lacrimal duct atresia, 2-3 toe syn...	OMIM:106260
Axenfeld-Rieger Syndrome, Type 3	Malar flattening, Cerebellar vermis hypoplasia, Proptosis, Hypertelorism	OMIM:602482
Malignant Atrophic Papulosis	Pleural effusion, Ischemic stroke, Respiratory failure, Ptosis	ORPHA:679
Robinow Syndrome	Syndactyly, Brachydactyly, Short stature, Hypertelorism, Bifid distal phalanx of the thumb, Crypt...	ORPHA:97360
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Zttk Syndrome	Epicanthus, Unilateral lung agenesis, Short stature, Sparse eyebrow, Dysplastic corpus callosum, ...	OMIM:617140
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia...	OMIM:216340
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Da...	ORPHA:31204
Stickler Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Short stature, Arachnodactyly, Abnorma...	ORPHA:828
Craniofacial Microsomia 1	Occipital encephalocele, Blepharophimosis, Hypoplasia of the maxilla, Micrognathia, Hydrocephalus...	OMIM:164210
Machado-Joseph Disease Type 3	Substantia nigra gliosis, Degeneration of the striatum, Proptosis	ORPHA:276244
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, Absent eyelas...	ORPHA:85199
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Long toe, Bowing of the long bones, Short stature, Arachnodactyly, Phalangeal dislocation, Hypert...	OMIM:130070
Cole Disease	Hyperglycemia	OMIM:615522
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Syndactyly, Sparse eyelashes, Short stature, Sparse eyebrow, Hypoplasia ...	OMIM:129400
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Mandibuloacral Dysplasia Progeroid Syndrome	Short stature, Sandal gap, Decreased fibular diameter, Postnatal growth retardation, Sparse eyebr...	OMIM:619127
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Secondary microcephaly, Cerebellar hypoplasia, Respiratory insufficiency	OMIM:618329
Camurati-Engelmann Disease	Mandibular prognathia, Carious teeth, Diaphyseal sclerosis, Genu valgum, Cortical thickening of l...	OMIM:131300
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla	OMIM:300676
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Micrognathia, Respiratory insufficiency due to mus...	ORPHA:2020
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Proptosis, ...	OMIM:610915
17Q11 Microdeletion Syndrome	Short stature, Hypertelorism, Bowing of the legs, Abnormal lung morphology, Diaphyseal dysplasia,...	ORPHA:97685
Dyskeratosis Congenita	Recurrent respiratory infections, Abnormal eyebrow morphology, Cerebral calcification, Short stat...	ORPHA:1775
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short stature, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Disproport...	ORPHA:93315
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis, Hyperglycemia, Hypoglycemia	ORPHA:134
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Brachydactyly, Sparse eyelashes, H...	OMIM:209885
Cerebrotendinous Xanthomatosis	Abnormal eyelid morphology, Myelopathy, Abnormal globus pallidus morphology, Abnormal lung morpho...	ORPHA:909
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad eyebrow, Palpebral edema, Microcephaly, Hypertelorism, Hydrocephalus, Synophrys, Genu valgu...	OMIM:619475
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hallux valgus, Short metacarpal, Severe short stature, Radial bowing, Coxa valga, Metatarsus addu...	OMIM:271640
Osteogenesis Imperfecta, Type Vii	Death in infancy, Rhizomelia, Short stature, Micromelia, Hypoplastic pulmonary veins, Bowing of t...	OMIM:610682
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Short stature, Broad hallux, Hyp...	OMIM:614188
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycemia	ORPHA:90065
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency, Equinus calcaneus	ORPHA:746
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia of the maxilla,...	OMIM:309520
Proteus Syndrome	Pulmonary embolism, Abnormal lung lobation, Abnormal finger morphology, Clinodactyly of the 5th f...	ORPHA:744
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Mullegama-Klein-Martinez Syndrome	Short stature, Curly eyelashes, Microcephaly, Micrognathia, Proptosis, Polydactyly, Clinodactyly ...	OMIM:301022
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Secondary microcephaly, Cerebra...	OMIM:105830
Fanconi Anemia, Complementation Group E	Short stature, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent radius, Prolonged ...	OMIM:600901
Holoprosencephaly 9	Short stature, Optic nerve hypoplasia, Abnormal cortical gyration, Microcephaly, Hypoplasia of th...	OMIM:610829
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Short stature, Camptodactyly of finger, Basal ganglia calcification, Long fingers,...	OMIM:256040
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Epicanthus, Short stature, Hypertelorism, Diaphyseal dysplasia, Proptosis,...	OMIM:619727
Fanconi Anemia, Complementation Group A	Short stature, Microcephaly, Absent thumb, Cryptorchidism, Short thumb, Absent radius, Prolonged ...	OMIM:227650
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia	OMIM:615453
Loeys-Dietz Syndrome 1	Arachnodactyly, Hypertelorism, Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Proptosis...	OMIM:609192
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:681
Loeys-Dietz Syndrome 2	Syndactyly, Spontaneous pneumothorax, Arachnodactyly, Postaxial polydactyly, Hypertelorism, Micro...	OMIM:610168
Van Den Ende-Gupta Syndrome	Hallux valgus, Abnormal eyebrow morphology, Arachnodactyly, Distal ulnar hypoplasia, Tapered fing...	OMIM:600920
Cleft Velum	Hypoplasia of the maxilla, Aspiration pneumonia	ORPHA:99772
Viss Syndrome	Micrognathia, Deeply set eye, Emphysema, Long toe, Microretrognathia, Short stature, Arachnodacty...	OMIM:619472
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Growth del...	ORPHA:79404
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia	OMIM:615954
Mitochondrial Complex I Deficiency, Nuclear Type 32	Cerebral atrophy, Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Fanconi-Bickel Syndrome	Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp...	ORPHA:2088
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Short stature, Hypertelorism, Hypoplasia of the maxilla, Carious teeth...	ORPHA:50814
Cardioacrofacial Dysplasia 1	Limb undergrowth, Hypoplasia of the maxilla, Postaxial polydactyly, Genu valgum	OMIM:619142
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Telecanthus, Toe syndactyly, Sparse eyelashes, Microcephaly, Hy...	OMIM:129900
Weill-Marchesani Syndrome 1	Short stature, Proportionate short stature, Hypoplasia of the maxilla, Shallow orbits, Broad phal...	OMIM:277600
Tuberous Sclerosis Complex	Respiratory distress, Retinal astrocytic hamartoma, Respiratory tract infection, Retinal hamartom...	ORPHA:805
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Entropion, Short stature, Overlapping toe, Hypertelorism, Bilateral crypto...	OMIM:617402
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Liver Disease, Severe Congenital	Epicanthus, Pulmonary edema, Pneumonia, Micrognathia, Hydrocele testis, Proptosis, Cough, Umbilic...	OMIM:619991
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Micrognathia	OMIM:241310
Abetalipoproteinemia	Keratoconjunctivitis sicca, Respiratory failure, Talipes equinovarus, Ptosis	ORPHA:14
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Respiratory failure, Conjunctivitis	ORPHA:533
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion...	ORPHA:340
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Hyperglycemia, Diabetes mellitus	ORPHA:465508
Neurofibromatosis Type 1	Short stature, Abnormal eyelid morphology, Cryptorchidism, Hydrocephalus, Genu valgum, Lisch nodu...	ORPHA:636
Pallister-Killian Syndrome	Micrognathia, Apneic episodes in infancy, Camptodactyly of 2nd-5th fingers, Short palm, Clinodact...	OMIM:601803
Peripheral Primitive Neuroectodermal Tumor	Proptosis	ORPHA:370348
Peters-Plus Syndrome	Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Conical i...	OMIM:261540
Weill-Marchesani Syndrome 2	Short metacarpal, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Short me...	OMIM:608328
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Hypoplas...	ORPHA:1101
Okamoto Syndrome	Hypertelorism, Microcephaly, Severe postnatal growth retardation, Proptosis, Polydactyly, Hypopla...	ORPHA:2729
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Brachydactyly, Toe syndactyly, Short stature, Abnormal nasolacrimal sy...	OMIM:101400
Niemann-Pick Disease Type C	Abnormal lung morphology, Respiratory insufficiency, Cerebral atrophy, Pulmonary infiltrates, Res...	ORPHA:646
Vascular Ehlers-Danlos Syndrome	Telecanthus, Hypoplastic lacrimal duct, Short stature, Epicanthus, Hypertelorism, Abnormal eyelas...	ORPHA:286
Holoprosencephaly 2	Aplasia of the premaxilla, Microcephaly, Alobar holoprosencephaly, Hypotelorism, Proptosis, Holop...	OMIM:157170
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn...	ORPHA:273
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia	OMIM:609069
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Deeply set eye, Hypoplasia of the maxilla, Decreased testicular size	ORPHA:3044
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Growth delay, Respi...	ORPHA:731
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia	ORPHA:440713
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hyperbilirubinemia, Fasting hypoglycemia, Glycosuria	OMIM:227810
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Cough, Aplasia/Hypoplasia of th...	ORPHA:238468
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d...	ORPHA:79078
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Umbilical hernia, Thick eyebrow	ORPHA:96129
Branchiooculofacial Syndrome	Telecanthus, Agenesis of cerebellar vermis, Proximal placement of thumb, Microcephaly, Postnatal ...	OMIM:113620
Meningioma	Progressive pulmonary function impairment, Hydrocephalus, Abnormality on pulmonary function testi...	ORPHA:2495
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Coxa valga, Hypoplasia of the maxilla, Supernumerary tooth, Ge...	OMIM:620099
Cowden Syndrome 1	Hydrocele testis, Hypoplasia of the maxilla, Hemimegalencephaly, Micrognathia	OMIM:158350
Juvenile Xanthogranuloma	Proptosis, Blepharitis	ORPHA:158000
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, Hypopla...	OMIM:305100
Cowden Syndrome 5	Hydrocele testis, Hypoplasia of the maxilla, Micrognathia	OMIM:615108
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus	OMIM:151660
Cowden Syndrome 6	Hydrocele testis, Hypoplasia of the maxilla, Micrognathia	OMIM:615109
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Dacryoc...	OMIM:604292
Pyruvate Carboxylase Deficiency	Hyperglycemia, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:3008
Loeys-Dietz Syndrome 3	Arachnodactyly, Hypertelorism, Pneumothorax, Dental malocclusion, Proptosis, Talipes equinovarus,...	OMIM:613795
Hyperthyroidism, Nonautoimmune	Proptosis	OMIM:609152
Familial Gestational Hyperthyroidism	Proptosis	ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Proptosis	ORPHA:424
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Hypertelorism, Microcephaly, Cryptorchidis...	OMIM:201750
Primrose Syndrome	Epicanthus, Cerebral calcification, Short stature, Hypertelorism, Bilateral cryptorchidism, Crypt...	OMIM:259050
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Large placenta, Cryptorchidism, Proptosis, Umbilical hernia	ORPHA:116
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Hypoplastic distal radial epiphyses, Short stature, Hypoplasia ...	OMIM:182250
Isolated Permanent Neonatal Diabetes Mellitus	Hyperglycemia, Neonatal insulin-dependent diabetes mellitus, Glycosuria	ORPHA:99885
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Short stature, Persistence of primary teeth, Avascular necrosis ...	ORPHA:2044
Beckwith-Wiedemann Syndrome	Cryptorchidism, Proptosis, Dandy-Walker malformation	OMIM:130650
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia	OMIM:124000
Atypical Werner Syndrome	Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hyperinsulinemi...	ORPHA:79474
Tropical Endomyocardial Fibrosis	Orthopnea, Dyspnea, Pulmonary venous hypertension, Proptosis	ORPHA:75565
Leprechaunism	Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos...	ORPHA:508
Retinoblastoma	Proptosis	ORPHA:790
Scorpion Envenomation	Hyperglycemia, Glycosuria	ORPHA:466677
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia	ORPHA:79102
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperglycemia, Hypoglycemia	OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperglycemia	ORPHA:293987
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla	OMIM:180500

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 Gcn1

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 Gcn1.

No publications found that use IMPC mice or data for Gcn1.

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MGI Allele	Allele Type	Produced
Gcn1^em1(IMPC)J	Exon Deletion	Mice
Gcn1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Gcn1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Gcn1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Gcn1 MGI:2444248

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Combined SHIRPA and Dysmorphology

Electroretinography 3

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Gcn1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data