Gene Summary

Name:
GCN1 activator of EIF2AK4
Synonyms:
GCN1L,  G431004K08Rik,  Gcn1l1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating bilirubin level Gcn1em1(IMPC)J HET Early adult 5.52×10-07
preweaning lethality, complete penetrance Gcn1em1(IMPC)J HOM   Early adult 0.00
increased circulating glucose level Gcn1em1(IMPC)J HET Early adult 1.60×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

6 Images

Electroretinography 3

Fundus file

12 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Electrocardiogram (ECG)

Waveform Image

16 Images

Auditory Brain Stem Response

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

8 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Camptodactyly of finger, Aplasia/Hypoplasia of the co... ORPHA:2570
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Encephalocele, Aplasi... ORPHA:1908
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Congenital Herpes Simplex Virus Infection
Microcephaly, Intrauterine growth retardation, Hydranencephaly ORPHA:293
Lethal Osteosclerotic Bone Dysplasia
Proptosis, Retrognathia, Intrauterine growth retardation, Micrognathia, Microcephaly, Mandibular ... ORPHA:1832
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Small cerebral cortex, Proptosis, Hypoplasia of the corpus callosum, Agene... OMIM:608716
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Proptosis, Hypoplasia of the pons, Cerebral atrophy, Intrauterine growth retardation, Micrognathi... OMIM:616171
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Proptosis, Umbilical hernia, Downslanted palpebra... OMIM:615834
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Proptosis, Cerebral atrophy, Hypoplasia of the brainstem, Upslanted palpebral fissure, Hypoplasia... OMIM:618492
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Micrognathia, Lower eyelid coloboma, Malar flattening, Microcepha... OMIM:618939
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Microretrognathia, Hypoplasia of the brainstem, Neonatal death, 2-3 toe syndacty... OMIM:236500
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Neonatal respiratory distress, Cerebral atrophy, Aspiration pneumonia, Intr... OMIM:619057
Faundes-Banka Syndrome
Downslanted palpebral fissures, Intrauterine growth retardation, Micrognathia, Hypoplasia of the ... OMIM:619376
Microhydranencephaly
Hydranencephaly, Proptosis, Pachygyria, Hypoplasia of the brainstem, Agenesis of corpus callosum,... OMIM:605013
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid co... OMIM:167730
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Polymicrogyria, Pterygium, Hypoplasia of the brainstem, Intrauterine growth reta... OMIM:225790
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Intrauterine growth retardation, Proptosis, Brachydactyly ORPHA:3303
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Malar flattening, Eyelid coloboma, Abnormal digit morphology, Dee... OMIM:268850
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Retrognathia, Cerebral atrophy, Downslanted palpebral fissures, Micrognathia, Neo... OMIM:611890
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Intrauterine growth retardation, Encephalocele, Hypoplasia of the ... OMIM:611134
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Epicanthus, Cerebella... OMIM:614175
Distal Deletion 13Q
Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Aplasia/Hypoplasia of the thumb, Microc... ORPHA:1590
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Abnormal cerebral cortex morphology, Proptosis, Long eyelashes, Long palpe... ORPHA:411493
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Intrauterine growth retardation, Genu valgum, Deeply set eye, Microcephaly,... OMIM:619321
Neu-Laxova Syndrome 2
Toe syndactyly, Proptosis, Finger syndactyly, Intrauterine growth retardation, Micrognathia, Cere... OMIM:616038
Short-Rib Thoracic Dysplasia 12
Natal tooth, Short toe, Atelectasis, Respiratory insufficiency, Short finger, Intrauterine growth... OMIM:269860
Oculoauriculofrontonasal Syndrome
Micrognathia, Encephalocele, Pericallosal lipoma, Microcephaly, Upper eyelid coloboma, Hypertelor... ORPHA:398156
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Agenesis of corpus callosum,... OMIM:614120
Pontocerebellar Hypoplasia, Type 1C
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Respiratory insufficiency, Death in chil... OMIM:616081
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Respiratory insufficiency, Death in infancy, Hyperintensity of cerebral whi... OMIM:611722
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Proptosis, Intrauterine growth retardation, Abnormal metacarpal morphology, Brachydactyly, Short ... ORPHA:2370
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short thumb, Overlapping toe, Micrognathia, Distally placed thumb, Enc... OMIM:619148
Meconium Aspiration Syndrome
Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Intrauteri... ORPHA:70588
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Atelectasis, Chronic sinusitis, Bronchiectasis OMIM:615294
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial ... OMIM:603194
Teebi Hypertelorism Syndrome 2
Proptosis, Delayed eruption of teeth, Thick eyebrow, Upper eyelid coloboma, Ptosis, Hypertelorism... OMIM:619736
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Hypoplasia of the zygomatic bone, Cryptophthalmos, Cutaneous finger syndactyly, H... OMIM:200110
Frontofacionasal Dysplasia
Telecanthus, Absent inner eyelashes, Encephalocele, Hypoplasia of the corpus callosum, Hypoplasia... ORPHA:1791
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Short palpebral fissure, Proptosis, Retrognathia, Umbilical hernia, Bilate... ORPHA:352490
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Recurrent respirator... OMIM:619466
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Cerebrocostomandibular Syndrome
Hydranencephaly, Neonatal respiratory distress, Myelomeningocele, Intrauterine growth retardation... ORPHA:1393
Hydrolethalus
Micromelia, Retrognathia, Micrognathia, Absent septum pellucidum, Agenesis of corpus callosum, De... ORPHA:2189
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Cerebellar agenesis, Cerebellar hypoplasia, Hydrocephalus, Holoprosencephaly, Da... OMIM:617967
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Orbital cyst, Or... OMIM:164180
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Cerebral cortical atrophy, Broad thumb, Micromelia, Camptodactyly... ORPHA:1784
Anencephaly 2
Short palpebral fissure, Anencephaly OMIM:619452
Immunodeficiency 95
Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in... OMIM:619773
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Proptosis, Malar flattening, Talipes equinovarus, Microcephaly, Short stature, Cone-s... ORPHA:85172
Burn-Mckeown Syndrome
Short palpebral fissure, Micrognathia, Lower eyelid coloboma, 2-3 toe syndactyly, Blepharophimosi... OMIM:608572
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Basal ganglia calcification, Cerebral calcification, Talipes equinovarus, Partial absence of the ... OMIM:620371
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Re... ORPHA:245
Cherubism
Broad jaw, Proptosis, Abnormal mandible morphology ORPHA:184
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Proptosis, Respiratory insufficiency, Myelomeningocele, Intrauter... ORPHA:1914
Schisis Association
Micromelia, Encephalocele, Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Retrognathia, Clinodactyly, Sparse medial eyebrow, Intrauterine growth ret... OMIM:618804
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Cerebral atrophy, Respiratory insufficiency, Intrauterine growth r... OMIM:245400
Multiple Mitochondrial Dysfunctions Syndrome 3
Retrognathia, Cerebral atrophy, Respiratory insufficiency, Polymicrogyria, Intrauterine growth re... OMIM:615330
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Proptosis, Respiratory insufficiency, Malar flattening, Abnormal metac... ORPHA:93262
Trisomy 18
Microretrognathia, Deviation of finger, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus... ORPHA:3380
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Neu-Laxova Syndrome 1
Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Neonatal death, Absent eyelashes, ... OMIM:256520
Orbital Margin, Hypoplasia Of
Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia OMIM:165600
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Atelectasis, Camptodactyly of finger, Downslanted palpebral fissures,... ORPHA:896
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Short palpebral fissure, Camptodactyly... ORPHA:2839
Thanatophoric Dysplasia
Disproportionate short-limb short stature, Micromelia, Proptosis, Respiratory insufficiency, Down... ORPHA:2655
Pontocerebellar Hypoplasia, Type 3
Reduced cerebral white matter volume, Proptosis, Hypoplasia of the pons, Cerebral atrophy, Hypopl... OMIM:608027
Cousin Syndrome
Fibular aplasia, Micrognathia, Dislocation of the femoral head, Humeroradial synostosis, Deeply s... OMIM:260660
Frias Syndrome
Proptosis, Downslanted palpebral fissures, Micrognathia, Ptosis, Hypertelorism, Short stature OMIM:609640
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Proptosis, Humeroradial synostosis, Hall... OMIM:612961
Anophthalmia Plus Syndrome
Deviation of finger, Eyelid coloboma, Spina bifida, Blepharophimosis, Hypertelorism ORPHA:1104
Filippi Syndrome
2-4 toe syndactyly, Proptosis, Finger clinodactyly, Postnatal growth retardation, Intrauterine gr... OMIM:272440
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Cerebellar hypoplasia, Mic... OMIM:225753
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Short finger, Respiratory insufficiency, Tapered finger, Hypertelorism, Res... OMIM:313420
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Brachydactyly, Metacarpal synostosis, Hypertelorism ORPHA:35099
Immunodeficiency 54
Respiratory insufficiency, Postnatal growth retardation, Intrauterine growth retardation, Microce... OMIM:609981
Bartsocas-Papas Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Ankyloblepharon, Micrognath... ORPHA:1234
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Short distal phalanx of finger, Hypoplasia of the maxilla, Proptosis ORPHA:2776
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Proptosis, Preaxial foot polydactyly, Split foot, 2-3 ... ORPHA:1540
Muenke Syndrome
Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of toe, Radial deviation of ... OMIM:602849
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Short stature, Hypoplasia of the capital femoral epiphysis, Respiratory failure OMIM:600561
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Proptosis, Telecanthus, Malar flattening, Agenesis of corpus callosum,... OMIM:109120
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Retrognathia, Camptodactyly of finger, Aplasia/Hypoplasia of the corpu... ORPHA:1194
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Bronchopulmonary Dysplasia
Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Respiratory failure re... ORPHA:70589
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Respiratory failure, Cerebral atrophy OMIM:618637
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616329
Jacobsen Syndrome
Intrauterine growth retardation, Micrognathia, Telecanthus, Eyelid coloboma, Epicanthus, Microcep... OMIM:147791
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Downslanted palpebral fissures, Micrognathia, Malar f... ORPHA:246
Toriello-Lacassie-Droste Syndrome
Short palpebral fissure, Proptosis, Telecanthus, Limbal dermoid, Eyelid coloboma, Absent septum p... ORPHA:3339
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Microcephaly OMIM:601355
Frontoocular Syndrome
Short palpebral fissure, Proptosis, Micrognathia, Upslanted palpebral fissure, Hypotelorism, Epic... OMIM:605321
Hyperekplexia 4
Cerebral atrophy, Umbilical hernia, Talipes equinovarus, Adducted thumb, Camptodactyly, Respirato... OMIM:618011
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Hypophosphatasia, Childhood
Short stature, Carious teeth, Proptosis, Bowing of the legs OMIM:241510
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Advanced ossific... OMIM:251450
Gorlin-Chaudhry-Moss Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Umbilical hernia, Upper eyelid colobom... ORPHA:2095
Diprosopus
Anencephaly ORPHA:1681
Neuropathy, Congenital Hypomyelinating, 3
Hand clenching, Retrognathia, Respiratory insufficiency, Micrognathia, Hypoplasia of the corpus c... OMIM:618186
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Proptosis, Clinodactyly, Long eyelashes, Micrognathia, Hypoplasia of the corpus callosum, Agenesi... OMIM:618577
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, Lipoid pneumonia, Respiratory failure, Thin corpus callosum OMIM:620326
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Lissencephaly, Abnormal cortical gyration, Broad thumb, Proptosis, Finger syndactyly, Preaxial ha... ORPHA:2211
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... ORPHA:887
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Bartsocas-Papas Syndrome 1
Micrognathia, Absent eyelashes, Talipes equinovarus, Cicatricial lagophthalmos, Absent eyebrow, B... OMIM:263650
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Proptosis OMIM:187500
Developmental And Epileptic Encephalopathy 71
Simplified gyral pattern, Respiratory failure, Respiratory insufficiency OMIM:618328
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Occipital encephalocele, Natal tooth, Clinodactyly, Large placenta, M... OMIM:249000
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Pol... ORPHA:1647
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Matern... ORPHA:99886
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Telecanthus, Eyelid coloboma, Ethmoidal encephalocele, Shor... OMIM:607597
Crouzon Syndrome
Hypoplasia of the maxilla, Proptosis, Respiratory insufficiency, Cerebellar hypoplasia, Ptosis, H... ORPHA:207
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Proptosis, Intrauterine growth retardation, Microcephaly, Short stature, Partial agenesis of the ... OMIM:618346
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Downslanted palpebral fissures, Femoral bowing, E... ORPHA:2563
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Respiratory insufficiency, Abnormal peri... ORPHA:370968
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Downslanted palpebral fissures, Eyelid coloboma, ... OMIM:157980
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Ground-glass opacification, Cystic pattern on pulmona... OMIM:610978
Cole-Carpenter Syndrome
Proptosis, Delayed eruption of teeth, Downslanted palpebral fissures, Abnormal dental enamel morp... ORPHA:2050
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Thanatophoric Dysplasia Type 2
Proptosis, Micromelia, Respiratory insufficiency, Encephalocele, Brachydactyly, Aplasia/Hypoplasi... ORPHA:93274
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection... ORPHA:244
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Rhizomelic Limb Shortening With Dysmorphic Features
Short 5th finger, Rhizomelia, Proptosis, Prominent fingertip pads, Short thumb, Downslanted palpe... OMIM:618821
Shashi-Pena Syndrome
Highly arched eyebrow, Reduced cerebral white matter volume, Proptosis, Retrognathia, Long eyelas... OMIM:617190
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Micrognathia, Lower eyelid coloboma, Sparse eyelashes, Delayed eruptio... OMIM:616367
Treacher Collins Syndrome 3
Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Micrognathia, Lower eyelid colo... OMIM:248390
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplasia of the frontal bone, Sparse eyebr... ORPHA:306542
Jacobsen Syndrome
Toe syndactyly, Finger syndactyly, Long hallux, Agenesis of corpus callosum, Epicanthus, Hypertel... ORPHA:2308
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial hand pol... OMIM:611561
Ichthyosis, Congenital, Autosomal Recessive 4B
Proptosis, Short finger, Death in infancy, Neonatal death, Ectropion OMIM:242500
Gillessen-Kaesbach-Nishimura Syndrome
Proptosis, Retrognathia, Abnormal lung lobation, Telecanthus, Micrognathia, Epicanthus, Microceph... OMIM:263210
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Bilateral ptosis, Respiratory insufficiency due t... ORPHA:254875
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Pulmonary hypoplasia, Proptosis, Micromelia, Respiratory insufficiency, Clu... ORPHA:1865
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Bilateral ptosis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Proptosis, Camptodactyly of finger, Intrauterine g... ORPHA:1323
Holoprosencephaly 11
Proptosis, Thick eyebrow, Hypotelorism, Agenesis of corpus callosum, Microcephaly, Holoprosenceph... OMIM:614226
Neu-Laxova Syndrome
Cerebral calcification, Micrognathia, Abnormal nasolacrimal system morphology, Large hands, Hyper... ORPHA:2671
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Hand clenching, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Overlapping fingers, Mic... OMIM:618291
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Respiratory insufficiency, Neonatal death, Microcephaly, Split hand, Respirator... OMIM:610127
Desbuquois Syndrome
Severe short stature, Small hand, Disproportionate short-limb short stature, Proptosis, Camptodac... ORPHA:1425
Cutis Laxa, Autosomal Recessive, Type Iie
Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Long eyelashes, Brachydactyly, ... OMIM:619451
Kleeblattschaedel
Proptosis, Hydrocephalus OMIM:148800
Oculocerebrofacial Syndrome, Kaufman Type
Short palpebral fissure, Retrognathia, Thin eyebrow, Telecanthus, Micrognathia, Upslanted palpebr... ORPHA:2707
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Neonatal respiratory distress, Atelectasis OMIM:267450
Combined Oxidative Phosphorylation Deficiency 4
Polymicrogyria, Intrauterine growth retardation, Death in infancy, Microcephaly, Respiratory failure OMIM:610678
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Frontonasal Dysplasia 3
Upper eyelid coloboma, Hypertelorism, Absent eyebrow, Sparse eyelashes OMIM:613456
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Agenesi... ORPHA:168486
Bainbridge-Ropers Syndrome
Hand clenching, Inferior cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the corpus cal... OMIM:615485
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Broad femoral neck, Proptosis, Downslanted palpebral fissures, Moderately short stature, Abnormal... ORPHA:157965
Frontofacionasal Dysplasia
Cranium bifidum occultum, Hypoplasia of the frontal bone, Ankyloblepharon, Telecanthus, Absent in... OMIM:229400
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Pro... ORPHA:949
Developmental And Epileptic Encephalopathy 48
Proptosis, Cerebral atrophy, Long eyelashes, Hypoplasia of the corpus callosum, Long palpebral fi... OMIM:617276
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Lowry-Maclean Syndrome
Hypoplasia of the maxilla, Proptosis, Retrognathia, Downslanted palpebral fissures, Aplasia/Hypop... ORPHA:2409
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Bronchiectasis, Abn... ORPHA:922
Marbach-Rustad Progeroid Syndrome
Proptosis, Eruption failure, Intrauterine growth retardation, Micrognathia, Delayed eruption of p... OMIM:619322
Congenital Myopathy 10A, Severe Variant
Talipes equinovarus, Respiratory failure, Camptodactyly of finger, Respiratory insufficiency OMIM:614399
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Proptosis, Carpal osteolysis, Metacarpal osteolysis, Ulnar deviation o... OMIM:166300
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Proboscis Lateralis
Unilateral narrow palpebral fissure, Abnormal nasolacrimal system morphology, Epicanthus, Abnorma... ORPHA:141099
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure ORPHA:70587
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Frontonasal Dysplasia 1
Cranium bifidum occultum, Hypoplasia of the maxilla, Clinodactyly, Anterior basal encephalocele, ... OMIM:136760
Intellectual Developmental Disorder, Autosomal Dominant 70
Highly arched eyebrow, Hypoplasia of the maxilla, Short palpebral fissure, Retrognathia, Hypoplas... OMIM:620157
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Coarse metaphyseal trabecularization, Proptosis, Death in childhoo... OMIM:618961
Bohring-Opitz Syndrome
Overlapping toe, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ep... OMIM:605039
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Talipes equinovarus, Bilobed right lung, Hyd... OMIM:612284
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia ORPHA:90117
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Slender long bones with narro... OMIM:608154
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Chondrodysplasia With Joint Dislocations, Gpapp Type
Proptosis, Short toe, Micrognathia, Genu valgum, Irregular epiphyses of the metacarpals, Limb und... OMIM:614078
Treacher-Collins Syndrome
Blepharospasm, Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zygomatic bone, Re... ORPHA:861
Iniencephaly
Lissencephaly, Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Talipes equinovaru... ORPHA:63259
Chromosome 5P13 Duplication Syndrome
Short palpebral fissure, Proptosis, Upslanted palpebral fissure, Hypotelorism, Agenesis of corpus... OMIM:613174
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Proptosis, Retrognathia, Downslanted palpebral fissures, Partial agenesis of the corpus callosum,... OMIM:620250
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Rhizomelia, Small hand, Ulnar deviation of finger, Broad femoral ne... OMIM:611209
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf... ORPHA:60032
Tyshchenko Syndrome
Proptosis, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Ptosis, Short stature OMIM:615102
Desbuquois Dysplasia 2
Severe short stature, Toe clinodactyly, Neonatal respiratory distress, Broad thumb, Proptosis, Po... OMIM:615777
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Proptosis, Microcephaly, Primary microcephaly, Short stature, Partial agen... OMIM:604804
Keipert Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad thumb, Broad distal phalanx of f... ORPHA:2662
Trisomy 12P
Proptosis, Micrognathia, Thick eyebrow, Malar flattening, Epicanthus, Large hands, Hypertelorism,... ORPHA:1699
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Abnormal lung lobation, Preaxial hand polydactyly, Upper limb undergr... OMIM:236680
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... ORPHA:3348
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Thin corpus callosum, Respiratory failure, Death in infancy OMIM:616277
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Basal ganglia cysts, Agenesis of corpus callosum, Microcephaly, Ptosis, Respira... OMIM:312170
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Broad thumb, Downslanted palpebral fissures, Malar flattening, Epicant... ORPHA:261295
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Micromelia, Preaxial polydactyly, Polymicrogyria, Hypoplasia of the... OMIM:616546
Postaxial Acrofacial Dysostosis
Short thumb, Downslanted palpebral fissures, Postnatal growth retardation, Micrognathia, Malar fl... OMIM:263750
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Retrognathia, Atelectasis, Neonatal death OMIM:300219
Helsmoortel-Van Der Aa Syndrome
Small hand, Carious teeth, Genu valgum, Epicanthus, Narrow palpebral fissure, Hypertelorism, Shor... OMIM:615873
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Periventricular leukomalacia, Broad eyebrow, Microcephaly, Hydrocephal... OMIM:618302
Acrofrontofacionasal Dysostosis 2
Broad thumb, Proptosis, Broad hallux, Downslanted palpebral fissures, Microcephaly, Hand polydact... OMIM:239710
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Proptosis, Finger syndactyly, Sandal gap, Intrauterine growth retardation, Hypo... ORPHA:254346
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Proptosis, Malar prominence, Micrognathia, Microcephaly, Ptosis, Short stature ORPHA:2522
Branchioskeletogenital Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Carious teeth, Proptosis, Umbilical hernia, Upp... ORPHA:1299
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Eyelid coloboma, Hypoplasia of the corpus callosum, Agenesi... OMIM:613001
Restrictive Dermopathy 2
Hypoplastic facial bones, Intrauterine growth retardation, Microretrognathia, Proptosis OMIM:619793
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cerebral cortical atrophy, Proptosis, Hypoplasia of the corpus callosum, Talipes equinovarus, Mic... OMIM:617481
20Q11.2 Microduplication Syndrome
Proptosis, Retrognathia, Downslanted palpebral fissures, Palpebral edema, Epicanthus, Microcephal... ORPHA:363659
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Eyelid coloboma, Radioulnar synostosis, ... OMIM:614900
Pycnodysostosis
Rhizomelia, Carious teeth, Disproportionate short-limb short stature, Hypoplasia of the maxilla, ... ORPHA:763
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Broad phalanx, Bilateral coxa valga, Narrow palpebral... ORPHA:439822
Barber-Say Syndrome
Delayed eruption of teeth, Ectropion, Telecanthus, Sparse or absent eyelashes, Aplasia/Hypoplasia... ORPHA:1231
Congenital Myopathy 22A, Classic
Proptosis, Respiratory insufficiency, Downslanted palpebral fissures, Bilateral ptosis, Micrognat... OMIM:620351
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Talipes equinovarus, Radioulnar syno... OMIM:154400
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Retrognathia, Atelectasis, Umbilical h... OMIM:613177
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Abnormali... ORPHA:468631
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Proptosis, Delayed eruption of teeth, ... ORPHA:2484
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Dentinogenesis imperfecta, Carious teeth, Proptosis, Atelectasis, Respiratory insufficiency, Post... ORPHA:536467
Developmental And Epileptic Encephalopathy 80
Short distal phalanx of finger, Proptosis, Polymicrogyria, Micrognathia, Upslanted palpebral fiss... OMIM:618580
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Split hand, Hydroceph... ORPHA:1335
Developmental And Epileptic Encephalopathy 75
Cerebral cortical atrophy, Proptosis, Secondary microcephaly, Upslanted palpebral fissure, Hypopl... OMIM:618437
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Thick eyebrow, Upslanted palpebral fissure, Hypoplasia of the corpus c... OMIM:618737
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Deeply set eye, Epicanthus, Hypertelorism, Aqueductal stenosis, Pulmonary artery an... OMIM:616462
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Rothmund-Thomson Syndrome, Type 3
Severe short stature, Short distal phalanx of finger, Sparse eyebrow, Microretrognathia, Proptosi... OMIM:615789
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Metatropic Dysplasia
Severe short stature, Hyperplasia of the femoral trochanters, Disproportionate short-limb short s... OMIM:156530
ERI1-related disease
Proptosis, Slender metacarpals, Oligodactyly, Intrauterine growth retardation, Micrognathia, Clin... OMIM:608739
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Chitayat Syndrome
Proptosis, Hallux valgus, Brachydactyly, Hypertelorism, Short stature, Abnormal pulmonary interst... OMIM:617180
Farber Disease
Recurrent upper respiratory tract infections, Short toe, Atelectasis, Respiratory insufficiency, ... ORPHA:333
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of finger, Lacrimal duct atresia, Downslanted palpebra... ORPHA:1529
Ullrich Congenital Muscular Dystrophy
Slender finger, Increased laxity of fingers, Micrognathia, Long toe, Adducted thumb, Respiratory ... ORPHA:75840
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Deeply set eye, Talipes equinov... ORPHA:85279
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Intrauterine growth retardation, Talipes equinovarus, Ventilator depende... OMIM:604320
Muenke Syndrome
Proptosis, Carpal synostosis, Malar flattening, Ptosis, Hydrocephalus, Hypertelorism, Tarsal syno... ORPHA:53271
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti... ORPHA:723
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Finger joint hypermobil... OMIM:620663
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Upslanted palpebral fissure, Microcephaly, Short stature, Mandibular p... ORPHA:93950
Raine Syndrome
Highly arched eyebrow, Natal tooth, Micromelia, Proptosis, Downslanted palpebral fissures, Long h... OMIM:259775
Congenital Myopathy 17
Hand clenching, Dental malocclusion, Clinodactyly, Proptosis, Respiratory insufficiency, Downslan... OMIM:618975
Lethal Acantholytic Erosive Disorder
Natal tooth, Intrauterine growth retardation, Camptodactyly of toe, Absent eyelashes, 2-3 finger ... ORPHA:158687
Vascular Malformation, Primary Intraosseous
Proptosis, Ectopic tooth eruption, Umbilical hernia OMIM:606893
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardation, La... ORPHA:254528
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Proptosis, Hypoplasia of the zygomatic bone, Micromelia... ORPHA:1798
Fetal Akinesia Deformation Sequence 1
Micrognathia, Talipes equinovarus, Blepharophimosis, Hypertelorism, Short palpebral fissure, Smal... OMIM:208150
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Proptosis, Hypoplasia of the zygomatic bone, Sandal gap, Micromelia, Broad hallux, Postnatal grow... OMIM:614800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Microcephaly, Ptosis, Respiratory insufficiency due to muscle wea... ORPHA:352447
Ritscher-Schinzel Syndrome 4
Proptosis, Downslanted palpebral fissures, Hypotelorism, Agenesis of corpus callosum, Cerebellar ... OMIM:619435
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Absent frontal sinuses, Communic... OMIM:244400
Ring Chromosome 13 Syndrome
Aplasia/hypoplasia involving bones of the hand, Micrognathia, Anencephaly, Agenesis of corpus cal... ORPHA:96176
Spinocerebellar Ataxia-Dysmorphism Syndrome
Proptosis, Epicanthus, Ptosis, Aplasia/Hypoplasia of the cerebellum, Short stature, Spina bifida ... ORPHA:1185
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp... OMIM:608647
Donnai-Barrow Syndrome
Proptosis, Downslanted palpebral fissures, Aplasia/Hypoplasia of the corpus callosum, Umbilical h... ORPHA:2143
Ogden Syndrome
Microretrognathia, Proptosis, Broad hallux, Cerebral atrophy, Downslanted palpebral fissures, Pos... ORPHA:276432
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Abnormal ... ORPHA:3258
Pontocerebellar Hypoplasia Type 1
Cerebral cortical atrophy, Hypoplasia of the pons, Progressive microcephaly, Aplasia/Hypoplasia o... ORPHA:2254
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hallux valgus, Cone... ORPHA:397973
Cole-Carpenter Syndrome 2
Dentinogenesis imperfecta, Microretrognathia, Proptosis, Downslanted palpebral fissures, Postnata... OMIM:616294
20Q13.33 Microdeletion Syndrome
Highly arched eyebrow, Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Hy... ORPHA:261311
Crouzon Syndrome With Acanthosis Nigricans
Proptosis, Hydrocephalus, Hypertelorism OMIM:612247
Jackson-Weiss Syndrome
Proptosis, Broad hallux, Short first metatarsal, Malar flattening, 2-3 toe syndactyly, Broad firs... OMIM:123150
Sweeney-Cox Syndrome
Short distal phalanx of finger, Micrognathia, 2-4 finger syndactyly, Cerebellar hypoplasia, 2-5 f... OMIM:617746
Leigh Syndrome, Nuclear
Focal substantia nigra T2 hyperintensity, Ptosis, Respiratory failure, Respiratory insufficiency OMIM:256000
Acrocardiofacial Syndrome
Cerebral cortical atrophy, Toe syndactyly, Proptosis, Finger syndactyly, Camptodactyly of finger,... ORPHA:2008
Houge-Janssens Syndrome 3
Proptosis, Hypoplasia of the brainstem, Umbilical hernia, Hypoplasia of the corpus callosum, Epic... OMIM:618354
Intermediate Nemaline Myopathy
Respiratory failure, Hypertelorism ORPHA:171433
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Proptosis, Intrauterine growth retardation, Mic... ORPHA:1225
Meckel Syndrome
Postaxial foot polydactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:564
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral cortical atrophy, Recurrent pneumonia, Sparse eyebrow, Secondary microcephaly, Micrognat... ORPHA:496641
Charge Syndrome
Abnormal tibia morphology, Postnatal growth retardation, Epicanthus, Hypertelorism, Aqueductal st... ORPHA:138
Atelosteogenesis Type I
Rhizomelia, Proptosis, Telecanthus, Micrognathia, Neonatal short-trunk short stature, Talipes equ... ORPHA:1190
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Proptosis, Short 4th toe, Upslanted palpebral fissure, Deeply set eye, Short 3rd toe, Tapered finger OMIM:618707
Aarskog-Scott Syndrome
Hypoplasia of the maxilla, Small hand, Delayed eruption of teeth, Finger syndactyly, Umbilical he... ORPHA:915
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Global brain atrophy, Cerebral atrophy, Abnormal periventricular white matter morphology, Death i... OMIM:615838
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Proptosis, Orbital craniosynostosis, Micrognathia, Shallow orbits, Hyd... OMIM:112240
Distal Deletion 10Q
Inferior cerebellar vermis hypoplasia, Clinodactyly, Postnatal growth retardation, Micrognathia, ... ORPHA:96148
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Epicanthus, Abnormal ... ORPHA:251014
Vacterl Association With Hydrocephalus
Absent thumb, Respiratory insufficiency, Radial club hand, Hydrocephalus, Stillbirth, Aqueductal ... OMIM:276950
Fraser Syndrome 3
Short toe, Abnormal lung lobation, Cryptophthalmos, Micrognathia, Cutaneous syndactyly, Hydroceph... OMIM:617667
Saul-Wilson Syndrome
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Proptosis, Flared metaphysis,... OMIM:618150
Thanatophoric Dysplasia Type 1
Proptosis, Micromelia, Lethal short-limbed short stature, Respiratory insufficiency, Femoral bowi... ORPHA:1860
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Marshall Syndrome
Hypoplasia of the maxilla, Sparse eyebrow, Proptosis, Hypoplasia of the zygomatic bone, Cerebral ... ORPHA:560
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... ORPHA:2369
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Slender finger, Cerebral atrophy, Microcephaly, Short stature, Growth delay, Respiratory failure OMIM:250940
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Toe syndactyly, Proptosis, Umbilical hernia, Long hallux, Upslanted palpebral fissure, Hypoplasia... OMIM:619234
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Broad thumb, Dental malocclusion, Clinodactyly, Proptosis, Umbili... OMIM:616331
Nasopalpebral Lipoma-Coloboma Syndrome
Hamartoma of the orbital region, Hypoplasia of the maxilla, Recurrent upper respiratory tract inf... ORPHA:2399
Pontocerebellar Hypoplasia, Type 10
Highly arched eyebrow, Cerebral cortical atrophy, Reduced cerebral white matter volume, Proptosis... OMIM:615803
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Arachnodactyly, Talipes equinovarus, Epicanthus, Hypertelorism, Foot... ORPHA:567
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod... ORPHA:99931
Apert Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Broad thumb, Delayed eruption of teeth, Finger syndact... ORPHA:87
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Atelectasis, Respiratory insufficiency, Intercostal m... ORPHA:258
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Proptosis, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Long ey... OMIM:618529
Caffey Disease
Cortical thickening of long bone diaphyses, Proptosis, Respiratory insufficiency ORPHA:1310
Marfanoid-Progeroid-Lipodystrophy Syndrome
Proptosis, Retrognathia, Downslanted palpebral fissures, Intrauterine growth retardation, Deeply ... OMIM:616914
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Short palpebral fissure, Hypoplasia of the olfactory bulb, Clinodactyl... ORPHA:251061
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Proptosis, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of ... OMIM:617895
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Deeply set eye, Hypertelo... ORPHA:177907
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, Talipes equinovarus,... OMIM:108720
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Proptosis, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long bone, Brach... ORPHA:440354
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Downslanted palpebral fissures, Arachnodactyly, Epicanthus, Clinodactyly of the 5th finger, Recur... ORPHA:2759
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Respiratory failure OMIM:619334
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar vermis hypoplasia, Microretrognathia, Proptosis, Downslanted palpebral fissures, Postn... OMIM:300966
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Intrauterine growth retardation... OMIM:620327
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Proptosis, Umbilical hernia, Downslanted palpebral fissures, Micrognat... ORPHA:2789
Optic Pathway Glioma
Proptosis, Growth delay, Hydrocephalus ORPHA:2086
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Delayed eruption of teeth, Atelectasis, Deeply set eye ORPHA:2314
Peroxisome Biogenesis Disorder 4A (Zellweger)
Upslanted palpebral fissure, Death in infancy, Hypertelorism, Epicanthus inversus, Respiratory fa... OMIM:614862
Manitoba Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Cryptophthalmos, Eyelid coloboma, Hypertelorism, Corneopalpebral s... OMIM:248450
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal cerebral morphology, Focal T2 hyperintense basal ganglia lesion, Respiratory failure ORPHA:70472
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bone, Umbilical hernia, Ca... ORPHA:920
Shprintzen-Goldberg Craniosynostosis Syndrome
Hypoplasia of the maxilla, Dental malocclusion, Proptosis, Umbilical hernia, Downslanted palpebra... OMIM:182212
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proptosis, Carpal osteolysis, Camptodactyly of finger, Metacarpal osteolysis, Telecanthus, Microg... ORPHA:2774
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Proptosis ORPHA:90653
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Acut... ORPHA:36238
Multiple Pterygium-Malignant Hyperthermia Syndrome
Severe short stature, Ulnar deviation of finger, Proptosis, Finger syndactyly, Abnormal mandible ... ORPHA:2215
Pediatric-Onset Graves Disease
Neonatal asphyxia, Proptosis, Intrauterine growth retardation, Microcephaly, Abnormal eyelid morp... ORPHA:525731
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Mycophenolate Mofetil Embryopathy
Micrognathia, Eyelid coloboma, Agenesis of corpus callosum, Hydrocephalus, Hypertelorism, Foot po... ORPHA:268249
Glycine Encephalopathy With Normal Serum Glycine
Hand clenching, Retrognathia, Overlapping toe, Long eyelashes, Hypoplasia of the corpus callosum,... OMIM:617301
Scedosporiosis
Pneumonia, Bronchitis, Apical pulmonary opacity, Sinusitis, Pulmonary fibrosis, Pleuritis, Respir... ORPHA:449280
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp... OMIM:257850
Meier-Gorlin Syndrome 4
Hypoplasia of the maxilla, Emphysema, Intrauterine growth retardation, Micrognathia, Patellar apl... OMIM:613804
Myhre Syndrome
Clinodactyly, Overlapping toe, Deeply set eye, Blepharophimosis, Narrow palpebral fissure, Hypert... OMIM:139210
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of cerebell... OMIM:615287
Osteoglophonic Dysplasia
Broad thumb, Bowing of the long bones, Broad phalanx, Hypertelorism, Short foot, Short metacarpal... OMIM:166250
Oculoectodermal Syndrome
Growth delay, Proptosis, Eyelid coloboma, Epicanthus, Giant cell granuloma of mandible, Limbal de... OMIM:600268
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Recurrent pneumonia, Aplasia/Hypoplasia of the capital femoral epiphysis, Proptosis, Flared metap... OMIM:215150
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Death in childhood, Death in infancy, Neonatal death, Hypoplasia of th... OMIM:614922
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Hypoplasia of the maxilla, Respiratory tract infection, Agene... OMIM:218000
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu... OMIM:263000
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Cerebral atrophy, Hypopl... OMIM:614261
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Crouzon Syndrome
Hypoplasia of the maxilla, Proptosis, Shallow orbits, Hydrocephalus, Hypertelorism, Conjunctiviti... OMIM:123500
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Short stature, Communicating hydrocephalus, Abnormal metaphysis morphology, Res... ORPHA:1861
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Leukoencephalopathy, Global brain atrophy, Myelopathy, Death in childhood, C... OMIM:617186
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Flared metaphysis, Short 5th metacarpal, Short middle phalanx of the 2... OMIM:156510
Avian Influenza
Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Con... ORPHA:454836
Fraser Syndrome 1
Abnormal cortical gyration, Dental malocclusion, Lacrimal duct aplasia, Myelomeningocele, Cryptop... OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Pachygyria, Microcephaly, Abnormal cerebral white matter morphology, Respiratory failure OMIM:606612
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Hyperplasia of the maxilla, Postnatal growth retardation, Micrognathia, Abnormal me... OMIM:268300
Scalp-Ear-Nipple Syndrome
Broad thumb, Finger syndactyly, Palpebral edema, Telecanthus, Lower eyelid coloboma, Hypotelorism... OMIM:181270
Oculotrichoanal Syndrome
Cryptophthalmos, Upper eyelid coloboma, Hypertelorism, Nasolacrimal duct obstruction ORPHA:2717
Fibrochondrogenesis
Proptosis, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Respiratory insuff... ORPHA:2021
Shprintzen-Goldberg Syndrome
Hypoplasia of the maxilla, Proptosis, Retrognathia, Umbilical hernia, Camptodactyly of finger, Do... ORPHA:2462
Hennekam-Beemer Syndrome
Pneumonia, Proptosis, Respiratory insufficiency, Camptodactyly of finger, Micrognathia, Upslanted... ORPHA:2135
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Delayed eruption of teeth, Atelectasis, Umbilical hernia, Abnormal dental enamel m... ORPHA:534
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Epicanth... ORPHA:457395
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Prolidase Deficiency
Recurrent pneumonia, Proptosis, Micrognathia, Ptosis, Hypertelorism OMIM:170100
Otospondylomegaepiphyseal Dysplasia
Disproportionate short stature, Dumbbell-shaped femur, Sandal gap, Proptosis, Flared femoral meta... ORPHA:1427
Hypomandibular Faciocranial Dysostosis
Proptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Death in infancy, Maxillo... ORPHA:1790
Constricting Bands, Congenital
Abnormal lung lobation, Encephalocele, Eyelid coloboma, Talipes equinovarus, Hand polydactyly, Sy... OMIM:217100
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Proptosis, Abnormal diaphysis morphology, Downslanted palpebral fissures, Sho... ORPHA:85184
Acrodysostosis
Bowing of the long bones, Epicanthus, Abnormal metacarpal morphology, Abnormal morphology of the ... ORPHA:950
Kniest Dysplasia
Rhizomelia, Dumbbell-shaped femur, Proptosis, Flared metaphysis, Umbilical hernia, Malar flatteni... OMIM:156550
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... ORPHA:552
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Preaxial hand polydactyly, Secondary microcephaly, Telecanthus, Microg... ORPHA:79113
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger... ORPHA:391474
Holoprosencephaly-Caudal Dysgenesis Syndrome
Proptosis, Radial club hand, Microcephaly, Abnormal morphology of the radius, Cyclopia, Holoprose... ORPHA:2165
Alg1-Cdg
Progressive microcephaly, Respiratory failure, Cerebral atrophy ORPHA:79327
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Femoral bowing, Tibial bowing, ... OMIM:616482
Osteopetrosis, Autosomal Recessive 5
Diffuse white matter abnormalities, Proptosis, Flared metaphysis, Cerebral atrophy, Micrognathia,... OMIM:259720
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Respiratory insufficiency, Basal ganglia calcification,... OMIM:135100
Marshall-Smith Syndrome
Aspiration pneumonia, Death in childhood, Hypoplasia of the corpus callosum, Prominence of the pr... OMIM:602535
Cardiofaciocutaneous Syndrome 1
Cerebral cortical atrophy, Palpebral thickening, Dental malocclusion, Proptosis, Downslanted palp... OMIM:115150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Micrognathia, Death in childhood, Hypoplasia of the corpus callosum, Sparse ... OMIM:210710
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Downslanted palpeb... OMIM:216550
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Microgn... ORPHA:818
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hy... OMIM:259600
Treacher Collins Syndrome 2
Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures... OMIM:613717
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Respiratory failure, Cerebral atrophy ORPHA:363400
Apert Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cutaneous finger syndactyly, Humerora... OMIM:101200
Xylt1-Cdg
Broad thumb, Proptosis, Clinodactyly, Short femoral neck, Flared metaphysis, Microcephaly, Short ... ORPHA:370930
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, Blepharophimosis, Hypertelorism, Short foot, Short meta... OMIM:170390
Zygomycosis
Proptosis, Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Chemo... ORPHA:73263
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, Hypertelorism, Syndactyly, Hypoplasia of the maxilla, P... OMIM:252100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Death in childhood, Hypoplasia of the corpus callosum, Th... OMIM:618278
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Micrognathia, Epicant... ORPHA:1507
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Dental malocclusion, Clinodactyly, Proptosis, Long eyelashes, Micrognathia, Telecant... OMIM:616894
Multiple Mitochondrial Dysfunctions Syndrome 1
Leukoencephalopathy, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fai... OMIM:605711
Donnai-Barrow Syndrome
Proptosis, Downslanted palpebral fissures, Aplasia/Hypoplasia of the corpus callosum, Umbilical h... OMIM:222448
Fontaine Progeroid Syndrome
Aplastic/hypoplastic lacrimal glands, Micrognathia, Hypoplasia of the corpus callosum, Neonatal d... OMIM:612289
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Deeply set eye, Epicanthus, Short hallux, ... OMIM:616268
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Pulmonary hypoplasia OMIM:313850
Mucolipidosis Type Iii Alpha/Beta
Recurrent upper respiratory tract infections, Proptosis, Umbilical hernia, Postnatal growth retar... ORPHA:423461
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Telecanthus, Thick eyebrow, ... ORPHA:228396
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral atrophy, Death in childhood, Microcephaly, Primary microcephaly, Short stature, Respirat... OMIM:619847
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Broad thumb, Global brain atrophy, Broad hallux, Downslanted palpebral... ORPHA:481152
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Disproportionate short-limb short stature, Dental malocclusion, Delaye... OMIM:101800
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Proptosis, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Umbilical hernia, Ma... ORPHA:1555
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... ORPHA:178320
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Recurrent upper respiratory tract infections, Hypoplasia of the m... OMIM:300534
Donohue Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Proptosis, Large hands OMIM:246200
Cornelia De Lange Syndrome 1
Pneumonia, Finger aplasia, Highly arched eyebrow, Proptosis, Delayed eruption of teeth, Micromeli... OMIM:122470
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Micrognathia, Genu valgum, Talipes equinovarus, Radioulnar synostosis, Broad... OMIM:245600
Campomelic Dysplasia
Proptosis, Respiratory insufficiency, Micrognathia, Femoral bowing, Hypoplasia of olfactory tract... ORPHA:140
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Short palpebral fissure, Dental malocclusion, Clinodactyly, Pachygyria... OMIM:601390
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Thumb contracture, Postnatal growth retardation, Large placenta, Micrognathia, Deepl... ORPHA:96334
Carpenter Syndrome 1
Toe syndactyly, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Genu valgum, Epicanthus,... OMIM:201000
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Hypertelorism, Genu varum, Prea... ORPHA:2753
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Proptosis, Finger syndactyly, Downslanted palpebral fissures, Short 5th metacarpa... ORPHA:264200
Bloom Syndrome
Pneumonia, Bronchitis, Retrognathia, Intrauterine growth retardation, Micrognathia, Azoospermia, ... ORPHA:125
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Severe postnatal growth retardation, Ptosis, Recurrent respiratory infections, Respira... ORPHA:98905
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Proptosis, Clinodactyly, Hallux valgus, Camptodactyly, Ptosis, Hypertelorism, Short stature, Recu... OMIM:613385
Bohring-Opitz Syndrome
Proptosis, Retrognathia, Intrauterine growth retardation, Micrognathia, Hypoplasia of the corpus ... ORPHA:97297
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Proptosis, Short toe, Umbilical hernia, Postnatal growth retarda... OMIM:616145
Cohen Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Finger syndactyly, Sandal gap, Downs... ORPHA:193
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Death in early adulthood, E... ORPHA:192
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Chronic sinus... ORPHA:420741
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Toe syndactyly, Telecanthus, Eyelid coloboma, Pulmonary artery stenosis, Hypoplasia of the radius... ORPHA:140952
Distal Xq28 Microduplication Syndrome
Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Clinodactyly, Upper eyel... ORPHA:293939
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Proptosis, Aplasia/Hypoplasia of the thumb, Hallu... ORPHA:93258
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Proptosis, Downslanted palpebral fissures, Micrognathia, Malar flattening, Death in infancy, Pulm... OMIM:235255
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Pulmonary hypoplasia OMIM:601809
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Proptosis, Short thumb, Preaxial hand polydactyly, Downslanted palpebral f... ORPHA:280
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Abnormal metacarpal morphology, Large hands, Aplasia/hypoplasia of the femur, Abnor... ORPHA:2636
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Chops Syndrome
Proptosis, Aspiration pneumonia, Long eyelashes, Thick eyebrow, Microcephaly, Brachydactyly, Hype... OMIM:616368
Rubinstein-Taybi Syndrome 1
Broad thumb, Postnatal growth retardation, Micrognathia, Agenesis of corpus callosum, Deeply set ... OMIM:180849
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Proptosis, Ma... ORPHA:93259
Wiedemann-Rautenstrauch Syndrome
Natal tooth, Clinodactyly, Micrognathia, Sparse eyelashes, Absent eyelashes, Talipes equinovarus,... OMIM:264090
Joubert Syndrome 21
Occipital encephalocele, Hypoplasia of the brainstem, Encephalocele, Chronic sinusitis, Hypoplasi... OMIM:615636
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebral cortical atrophy, Sparse eyebrow, Proptosis, Downslanted palpebral fissures, Malar flatt... OMIM:617011
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Radio-Renal Syndrome
Severe short stature, Chylothorax, Retrognathia, Micromelia, Micrognathia, Pleural effusion, Brac... ORPHA:3015
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Micrognathia, Epicanthus, Euryblepharon, Short palm, Hypertelorism, Downslante... ORPHA:3107
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Epicanthus, Hyper... ORPHA:84
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Abnormal basal ganglia morphology, Pneumothorax, Primary microcephaly, Growth d... ORPHA:445038
Prolidase Deficiency
Carious teeth, Proptosis, Hypoplasia of the zygomatic bone, Micrognathia, Genu valgum, Arachnodac... ORPHA:742
Postsynaptic Congenital Myasthenic Syndromes
Ptosis, Respiratory failure ORPHA:98913
Antley-Bixler Syndrome
Proptosis, Hypoplasia of the zygomatic bone, Downslanted palpebral fissures, Camptodactyly of fin... ORPHA:83
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Retrognathia, Proptosis, Downslanted palp... OMIM:614437
Fraser Syndrome
Toe syndactyly, Dental malocclusion, Finger syndactyly, Lacrimal duct aplasia, Abnormal lung loba... ORPHA:2052
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Tapered toe, Respiratory insufficiency, Polymicrogyria, Intracereb... OMIM:608836
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory failure, Pulmonary infiltrates ORPHA:70578
Pfeiffer Syndrome
Hypoplasia of the maxilla, Broad thumb, Shortening of all middle phalanges of the fingers, Finger... OMIM:101600
Juvenile Nasopharyngeal Angiofibroma
Proptosis ORPHA:289596
Geroderma Osteodysplasticum
Severe short stature, Hypoplasia of the maxilla, Downslanted palpebral fissures, Femoral bowing, ... OMIM:231070
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Basal ganglia calcification, Respiratory failure, Tapered finger OMIM:616505
Nestor-Guillermo Progeria Syndrome
Sparse eyebrow, Microretrognathia, Dental malocclusion, Proptosis, Micrognathia, Mandibular osteo... OMIM:614008
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Neonatal short-limb short stature, Natal tooth, Metaphyseal cupping, Flared metaphysi... ORPHA:50945
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell... ORPHA:3103
Congenital Myopathy 22B, Severe Fetal
Leukoencephalopathy, Tapered toe, Proptosis, Retrognathia, Downslanted palpebral fissures, Microg... OMIM:620369
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Proptosis, Delayed eruption of teeth, ... OMIM:601812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Proptosis, Micrognathia, Death in early adulthood, Acroosteolysis of distal phalanges (feet), Ost... OMIM:608612
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Abnormal basal ganglia MRI signal intensity, Neuronal los... ORPHA:506
Marshall-Smith Syndrome
Proptosis, Retrognathia, Bowing of the long bones, Cerebellar hypoplasia, Hypertelorism ORPHA:561
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microcephaly, H... ORPHA:88618
Van Maldergem Syndrome 2