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
preweaning lethality, complete penetrance Gcn1em1(IMPC) HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye, Intrauterine growth retardation, Abnormality of the diencephalon, Aplasia/Hypopla... ORPHA:2570
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory failure, Micrognathia, Dyspnea, Microcephaly, Mandib... ORPHA:1832
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Proptosis, Finger syndactyly, Intrauterine growth retardation, Hypertelorism, Apla... ORPHA:1908
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly, Intrauterine growth retardation ORPHA:293
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Cerebellar hypoplasia, Small cerebral cortex, Highly arched eyebrow,... OMIM:608716
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Telecanthus, Narrow palpebral fissure, Blepharophimosis, Stillbirth,... OMIM:300073
Treacher Collins Syndrome 4
Respiratory failure requiring assisted ventilation, Lower eyelid coloboma, Micrognathia, Downslan... OMIM:618939
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Intrauterine growth retardation, Micrognathia, Microcephaly, Simplified gyral p... OMIM:616171
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Intrauterine growth retardation OMIM:301021
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Intrauterine growth retardation, Severe short stature, Respiratory failure, Gro... OMIM:619057
Intellectual Developmental Disorder, Autosomal Dominant 26
Upslanted palpebral fissure, Short palpebral fissure, Hypertelorism, Intrauterine growth retardat... OMIM:615834
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Upslanted palpebral fissure, Cerebral atrophy, Agenesis of corpus callosum, Microcephaly, Simplif... OMIM:618492
Faundes-Banka Syndrome
Deeply set eye, Intrauterine growth retardation, Micrognathia, Hypoplasia of the lower eyelids, D... OMIM:619376
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Global brain atrophy, Hyperintensity of cerebral white matter on MRI, Re... OMIM:611722
Meconium Aspiration Syndrome
Hypoxemia, Intrauterine growth retardation, Atelectasis, Pulmonary arterial hypertension, Neonata... ORPHA:70588
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Rocker bottom foot, Respiratory failure, Ptosis, Micrognathia, Downslanted palp... OMIM:611890
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Intrauterine growth retardation, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
Cherubism
Abnormal mandible morphology, Obstructive sleep apnea, Upper airway obstruction, Proptosis, Broad... ORPHA:184
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, 2-3 toe syndactyly, Cutaneous syndactyly, Cerebellar hypoplasia, Clinodactyly of t... OMIM:236500
Richieri-Costa/Guion-Almeida Syndrome
Deeply set eye, Hypotelorism, Ptosis, Eyelid coloboma, Downslanted palpebral fissures, Microcepha... OMIM:268850
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Cerebellar hypoplasia, Overlapping fingers, Respiratory failure, Micrognathia, Respiratory insuff... OMIM:618291
Tetralogy Of Fallot
Brachydactyly, Clinodactyly of the 5th finger, Proptosis, Intrauterine growth retardation ORPHA:3303
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Absent lacrimal punctum, Clinodactyly of the 5th finger, Lower eyelid c... OMIM:167730
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Agenesis of corpus callosum, Bronchiectasis, Atelectasis, Lissencephaly, Abnormal mucociliary cle... OMIM:619466
Craniotelencephalic Dysplasia
Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal... OMIM:218670
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxemia, Late ... ORPHA:2302
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Epicanthus, Ptosis, Postaxial polydactyly, Narrow palpebral... OMIM:614175
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Deeply set eye, Intrauterine growth retardation, Optic nerve hypoplasia, Hypoplasia of eyelid, Mi... OMIM:619321
Distal Monosomy 13Q
Hypertelorism, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the corpus callosum, Anence... ORPHA:1590
Pontocerebellar Hypoplasia Type 10
Long eyelashes, Growth delay, Highly arched eyebrow, Simplified gyral pattern, Long palpebral fis... ORPHA:411493
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Micrognathia, Microcephaly, Limbal dermoid, Upper eyelid coloboma, Hypertelo... ORPHA:398156
49,Xxxxy Syndrome
Upslanted palpebral fissure, Coxa valga, Hypertelorism, Delayed eruption of teeth, Asthma, Clinod... ORPHA:96264
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Intrauterine growth retardation, Respiratory failure, Microcephaly, Retrognathi... OMIM:615330
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Postaxial foot polydactyly, Anencephaly, Micrognathia, Postaxial han... OMIM:614120
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Proptosis, Intrauterine growth retardation, Clinodactyly of the 5th finger, Short ... ORPHA:2370
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Respiratory in... OMIM:616081
Meckel Syndrome, Type 4
Bowing of the long bones, Hydrocephalus, Intrauterine growth retardation, Anencephaly, Microcepha... OMIM:611134
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Hypoplasia of ... OMIM:605013
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Malar flattening, Lower eyelid coloboma, Micrognathia OMIM:248400
Frontofacionasal Dysplasia
Absent inner eyelashes, Blepharophimosis, Aplasia/Hypoplasia of the eyebrow, Ptosis, Upper eyelid... ORPHA:1791
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Mucus Inspissation Of Respiratory Tract
Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction, Bronchiectasis OMIM:253240
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Intrauterine growth retardation, Tracheomalacia, Clinod... ORPHA:1393
Autism Spectrum Disorder Due To Auts2 Deficiency
Upslanted palpebral fissure, Short palpebral fissure, Hypertelorism, Joint contracture of the 5th... ORPHA:352490
Meckel Syndrome, Type 2
Bowing of the long bones, Intrauterine growth retardation, Anencephaly, Polydactyly, Dandy-Walker... OMIM:603194
Filippi Syndrome
Intrauterine growth retardation, Cutaneous syndactyly, 2-4 toe syndactyly, Microcephaly, Finger c... OMIM:272440
Hydrolethalus
Deeply set eye, Agenesis of corpus callosum, Anencephaly, Micrognathia, Micromelia, Postaxial han... ORPHA:2189
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Small cerebral cortex, Proptosis OMIM:604804
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Gonadotropin deficiency, Restrictive ventilatory defect, Parenchymal conso... OMIM:610978
Oculocerebrocutaneous Syndrome
Orbital cyst, Agenesis of corpus callosum, Eyelid coloboma, Dandy-Walker malformation, Orbital en... OMIM:164180
Acrofrontofacionasal Dysostosis
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Ptosis, Eyelid coloboma, Micromelia, Short dist... ORPHA:1784
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Short palm, Cone-shaped epiphyses of the phalanges of the hand, Microcephaly, Short stature, Mala... ORPHA:85172
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Cerebral atrophy, Intrauterine growth retardation, Respiratory failure, Neonatal death, Growth de... OMIM:245400
Acute Interstitial Pneumonia
Nonproductive cough, Pulmonary infiltrates, Reticulonodular pattern on pulmonary HRCT, Ground-gla... ORPHA:79126
Short-Rib Thoracic Dysplasia 12
Brachydactyly, Bowing of the legs, Bowing of the arm, Hydrocephalus, Hypertelorism, Intrauterine ... OMIM:269860
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of the distal phalange... OMIM:259610
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Malar flattening, Lower eyelid coloboma, Micrognathia OMIM:248390
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Tracheomalacia, Thick eyebrow, Telecanthus, Blepharophimosis, Atelect... ORPHA:896
Pontocerebellar Hypoplasia, Type 4
Cerebellar hypoplasia, Respiratory failure, Microcephaly, Hypoplasia of the brainstem, Hypoplasia... OMIM:225753
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Hydrocephalus, Proptosis, Ptosis, Hypoplasia of the maxilla, Malar flattening, Apl... ORPHA:93262
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, Aplasia/Hypoplasia of the eyebrow, Hypoplas... ORPHA:245
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Hand oligodactyly, Intrauterine growth retardation, Fibular hypoplasia, Aquedu... ORPHA:1788
Spondylometaphyseal Dysplasia, X-Linked
Severe short stature, Respiratory failure, Tapered finger, Hyperextensibility of the finger joint... OMIM:313420
Chromosome 13Q33-Q34 Deletion Syndrome
Deeply set eye, Hypertelorism, Agenesis of corpus callosum, Advanced eruption of teeth, Cutaneous... OMIM:619148
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide OMIM:615872
Anencephaly 2
Short palpebral fissure, Anencephaly OMIM:619452
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Sandestig-Stefanova Syndrome
Clinodactyly, Intrauterine growth retardation, Rocker bottom foot, Respiratory failure, Highly ar... OMIM:618804
Shashi-Pena Syndrome
Ptosis, Highly arched eyebrow, Retrognathia, Hypertelorism, Proptosis OMIM:617190
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Myelomeningocele, Intrauterine growth retardation, Short distal phalanx of finger,... ORPHA:1914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Dandy-W... OMIM:615287
3-Methylglutaconic Aciduria, Type Viii
Cerebral atrophy, Hypoplasia of the corpus callosum, Respiratory failure, Growth delay, Secondary... OMIM:617248
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis OMIM:300455
Burn-Mckeown Syndrome
Short palpebral fissure, 2-3 toe syndactyly, Lower eyelid coloboma, Micrognathia, Mandibular prog... OMIM:608572
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Short stature, Respiratory failure, Hypoplasia of the capital femoral epiphysis OMIM:600561
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Microcephaly, Preaxial hand polydactyly, Proptosis, Hypoplasia of the corpus callosum OMIM:601420
Multiple Synostoses Syndrome 3
Proptosis, Limited interphalangeal movement, Broad hallux, Humeroradial synostosis, Broad thumb, ... OMIM:612961
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Atelectasis OMIM:616726
Pontocerebellar Hypoplasia, Type 3
Cerebral atrophy, Progressive microcephaly, Cerebellar hypoplasia, Hypoplasia of the brainstem, S... OMIM:608027
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Growth delay, Atelectasis OMIM:268500
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Respiratory failure, Ptosis OMIM:618637
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Parenchymal consolidation, Hypoxemia, Asthma... ORPHA:2902
Anophthalmia Plus Syndrome
Deviation of finger, Eyelid coloboma, Spina bifida, Blepharophimosis, Hypertelorism ORPHA:1104
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Hartsfield Syndrome
Encephalocele, Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Teleca... ORPHA:2117
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida, Aplasia/Hypoplasia of the radius ORPHA:2476
Thanatophoric Dysplasia
Brachydactyly, Intrauterine growth retardation, Respiratory insufficiency, Micromelia, Downslante... ORPHA:2655
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, ... ORPHA:1194
Hyperekplexia 4
Cerebral atrophy, Respiratory failure, Adducted thumb, Talipes equinovarus, Umbilical hernia, Cam... OMIM:618011
Frias Syndrome
Ptosis, Micrognathia, Downslanted palpebral fissures, Short stature, Hypertelorism, Proptosis OMIM:609640
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea ORPHA:64741
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiect... ORPHA:922
Neu-Laxova Syndrome 1
Clinodactyly, Pterygium, Cerebellar hypoplasia, Ablepharon, Micrognathia, Micromelia, Microcephal... OMIM:256520
Jackson-Weiss Syndrome
Proptosis, Toe syndactyly, Symphalangism affecting the phalanges of the hand, 2-3 toe syndactyly,... ORPHA:1540
Congenital Neuronal Ceroid Lipofuscinosis
Agenesis of corpus callosum, Cerebellar hypoplasia, Respiratory failure, Central sleep apnea, Mic... ORPHA:168486
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Microcephaly, Basal ganglia calcification, Hypoplasia of the maxilla, Proptosis OMIM:608432
Schisis Association
Anencephaly, Micromelia, Microcephaly, Spina bifida, Encephalocele ORPHA:63862
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Respiratory failure, Respiratory insufficiency, Microcephaly, Neonatal death, A... OMIM:610127
Immunodeficiency 54
Adrenocorticotropic hormone excess, Intrauterine growth retardation, Respiratory failure, Microce... OMIM:609981
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Agenesis of corpus callosum, Hypoplasia of the maxilla, Short stature, Malar flatteni... OMIM:109120
Pontocerebellar Hypoplasia, Type 10
Progressive microcephaly, Long eyelashes, Growth delay, Highly arched eyebrow, Microcephaly, Simp... OMIM:615803
Bartsocas-Papas Syndrome
Absent thumb, Toe syndactyly, Finger syndactyly, Popliteal pterygium, Aplasia/Hypoplasia of the d... ORPHA:1234
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Upslanted palpebral fissure, Partial duplication of the phalanx of h... OMIM:616331
Trisomy 18
Hypertelorism, Intrauterine growth retardation, Deviation of finger, Aplasia/Hypoplasia of the co... ORPHA:3380
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Severe short stature, Sandal gap, Broad femoral neck, Short 1... OMIM:251450
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis, Hypertelorism, Proptosis ORPHA:35099
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Oculocerebrofacial Syndrome, Kaufman Type
Upslanted palpebral fissure, Short palpebral fissure, Thin eyebrow, Blepharophimosis, Respiratory... ORPHA:2707
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Respiratory failure, Micrognathia, Neonatal death, Respiratory insufficie... OMIM:228940
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Toriello-Lacassie-Droste Syndrome
Brachydactyly, Short palpebral fissure, Short palm, Agenesis of corpus callosum, Abnormal conjunc... ORPHA:3339
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Short stature, Proptosis ORPHA:2776
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Short stature, Malar flattening, Mandibular prognathia, Upper eyelid colobom... OMIM:603463
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Encephalocele, Finger syndactyly, Hypertelorism, Ptosis, Eyelid colob... ORPHA:2211
Hypophosphatasia, Childhood
Bowing of the legs, Short stature, Carious teeth, Proptosis OMIM:241510
Helsmoortel-Van Der Aa Syndrome
Ptosis, Eyelid coloboma, Downslanted palpebral fissures, Short stature, Small hand, Narrow palpeb... OMIM:615873
Gorlin-Chaudhry-Moss Syndrome
Hypertelorism, Hypoplasia of the maxilla, Short distal phalanx of finger, Short stature, Abnormal... ORPHA:2095
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar hypoplasia, Respiratory failure, Microcephaly, Cerebral cortical atrophy, Abnormal per... ORPHA:370968
Pelvis-Shoulder Dysplasia
Short palpebral fissure, Absent proximal finger flexion creases, Aplasia/Hypoplasia of the fibula... ORPHA:2839
Crouzon Syndrome
Cerebellar hypoplasia, Ptosis, Hypoplasia of the maxilla, Hydrocephalus, Respiratory insufficienc... ORPHA:207
Frontoocular Syndrome
Upslanted palpebral fissure, Short palpebral fissure, Hypotelorism, Ptosis, Micrognathia, Epicant... OMIM:605321
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Eyelid coloboma, Downslanted palpebral fissures, ... ORPHA:2563
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of the radius, Ectropion of lower eyelids, ... ORPHA:246
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Short distal phalanx of finger, Hydranencephaly OMIM:601355
Diprosopus
Anencephaly ORPHA:1681
Muenke Syndrome
Brachydactyly, Clinodactyly, Dental malocclusion, Thimble-shaped middle phalanges of hand, Hypert... OMIM:602849
Mandibulofacial Dysostosis With Alopecia
Trismus, Sparse eyebrow, Lower eyelid coloboma, Micrognathia, Hypoplasia of the maxilla, Delayed ... OMIM:616367
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Camptodactyly of finger, Respiratory failure, Respiratory distres... OMIM:614399
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Eyelid col... OMIM:607597
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Proptosis OMIM:187500
Oculocerebrocutaneous Syndrome
Finger syndactyly, Hypertelorism, Cerebellar hypoplasia, Aplasia/Hypoplasia of the corpus callosu... ORPHA:1647
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Bilateral ptosis, Respiratory insufficiency due to musc... ORPHA:254875
Jacobsen Syndrome
Brachydactyly, Hypertelorism, Intrauterine growth retardation, Clinodactyly of the 5th finger, Ab... OMIM:147791
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Upper airway o... ORPHA:3348
Cousin Syndrome
Toe syndactyly, 4-5 toe syndactyly, Short palpebral fissure, 2-3 toe syndactyly, Absent proximal ... OMIM:260660
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Upslanted palpebral fissure, Pterygium, Ablepharon, Short thumb, Micro... OMIM:263650
Surfactant Metabolism Dysfunction, Pulmonary, 3
Clubbing, Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Reticular pattern ... OMIM:610921
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Eyelid coloboma, Downslanted palpebral fissures, ... OMIM:157980
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypertelorism, Microcephaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Epic... OMIM:618354
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Brachydactyly, Aplasia/Hypoplasia of the frontal sinuses, Agenesis of corpus callosum, Cranium bi... ORPHA:306542
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Sandal gap, Thick eyebrow, Epicanthus, Micromelia, Short stature, Postnatal growth... OMIM:614800
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Short metacarpal, Micrognathia, Short stature, Short toe, Genu valgum, Proptosis, ... OMIM:614078
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Clinodactyly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Long eyelashes, Mic... OMIM:618577
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Death in childhood, Limb undergrowth, Neonatal respiratory d... OMIM:618961
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Microcephaly, Death in infancy, Polymicrogyria OMIM:610678
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Intrauterine growth retardation, Microcephaly, Partial agenesis of the corpus callosum, Short sta... OMIM:618346
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Microcephaly, Micromelia, Short stature, Limb undergrowth, Proptosis OMIM:122900
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Intrauterine growth retardation, Ptosis, Micrognat... ORPHA:1323
Frontonasal Dysplasia 3
Upper eyelid coloboma, Hypertelorism, Sparse eyelashes, Absent eyebrow OMIM:613456
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bilateral ptosis, Exertional dyspnea ORPHA:254361
Cole-Carpenter Syndrome
Bowing of the long bones, Communicating hydrocephalus, Intrauterine growth retardation, Delayed e... ORPHA:2050
Tyshchenko Syndrome
Intrauterine growth retardation, Sleep apnea, Ptosis, Short stature, Hypoplasia of the corpus cal... OMIM:615102
Kleeblattschaedel
Proptosis, Hydrocephalus OMIM:148800
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Cerebellar hypoplasia, Micrognathia, Microcephaly, Dandy-Walker m... OMIM:249000
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Micrognathia, Flared metaphysis, Short stature, Cardiorespiratory arrest,... ORPHA:93359
Pycnodysostosis
Micrognathia, Small hand, Decreased response to growth hormone stimulation test, Brachydactyly, C... ORPHA:763
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Respiratory distress, Retrognathia, Neonatal death, Death in infancy OMIM:300219
Desbuquois Syndrome
Coxa valga, Camptodactyly of finger, Severe short stature, Clinodactyly of the 5th finger, Abnorm... ORPHA:1425
Thanatophoric Dysplasia Type 2
Brachydactyly, Micromelia, Short stature, Abnormality of the metaphysis, Hydrocephalus, Respirato... ORPHA:93274
Jacobsen Syndrome
Aplasia/Hypoplasia of the eyebrow, Ptosis, Spina bifida, Short toe, Epicanthus, Death in infancy,... ORPHA:2308
Primary Ciliary Dyskinesia
Clubbing, Airway obstruction, Chronic rhinitis, Respiratory failure, Bronchiectasis, Atelectasis,... ORPHA:244
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Holoprosencephaly 11
Hypotelorism, Agenesis of corpus callosum, Thick eyebrow, Microcephaly, Synophrys, Holoprosenceph... OMIM:614226
Bainbridge-Ropers Syndrome
Upslanted palpebral fissure, Thin eyebrow, Thick eyebrow, Highly arched eyebrow, Micrognathia, Mi... OMIM:615485
Proboscis Lateralis
Abnormal corpus callosum morphology, Optic nerve hypoplasia, Nasolacrimal duct obstruction, Ptosi... ORPHA:141099
Frontofacionasal Dysplasia
Absent inner eyelashes, S-shaped palpebral fissures, Cranium bifidum occultum, Blepharophimosis, ... OMIM:229400
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Flat capital femoral epiphysis, Short femoral neck, Broad femoral neck,... ORPHA:157965
Lowry-Maclean Syndrome
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Microgn... ORPHA:2409
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Respiratory failure, Tachypnea, Inspiratory stridor, Camptodacty... OMIM:604320
Acrocraniofacial Dysostosis
Hypotelorism, Metatarsus adductus, Ptosis, Downslanted palpebral fissures, Micrognathia, Short st... OMIM:201050
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Hypertelorism, Long eyelashes, Micrognathia, Short stature, Broad th... OMIM:618529
Acrocraniofacial Dysostosis
Proptosis, Coxa valga, Advanced eruption of teeth, Triphalangeal thumb, Tapered finger, Ptosis, M... ORPHA:949
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Short 5th finger, Short thumb, Micrognathia, Downslanted palpebral fissures, Hyperext... OMIM:618821
Acrofacial Dysostosis 1, Nager Type
Clinodactyly, Trismus, Radial deviation of finger, Micrognathia, Sparse lower eyelashes, Microcep... OMIM:154400
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Micrognathia, Hypoplasia of the ... OMIM:166300
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Hypoplastic frontal sinuses, Hypertelorism, Agenesis of corpus callo... OMIM:136760
Neu-Laxova Syndrome
Abnormal cortical gyration, Pterygium, Trismus, Cerebellar hypoplasia, Micrognathia, Micromelia, ... ORPHA:2671
Chromosome 5P13 Duplication Syndrome
Proptosis, Upslanted palpebral fissure, Short palpebral fissure, Hypotelorism, Agenesis of corpus... OMIM:613174
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Parenchymal consolidatio... ORPHA:723
Treacher-Collins Syndrome
Absent eyelashes, Blepharospasm, Micrognathia, Eyelid coloboma, Downslanted palpebral fissures, H... ORPHA:861
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Cerebral atrophy, Hypoplasia of the ulna, Rhizomelia, Cerebellar hypoplasia, Hypop... OMIM:602613
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Posta... OMIM:611561
Vacterl/Vater Association
Finger syndactyly, Intrauterine growth retardation, Occipital encephalocele, Anencephaly, Preaxia... ORPHA:887
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Deeply set eye, Slender long bones with narrow diaphyses, Intrauterine growth retardation, Short ... OMIM:608154
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Genu varum, Toe clinodactyly, Intrauterine growth retardat... OMIM:615777
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Marbach-Rustad Progeroid Syndrome
Shallow orbits, Intrauterine growth retardation, Femur fracture, Hyperintensity of cerebral white... OMIM:619322
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Hypoplasia of the premaxilla, Fibular hypoplasia, Sandal gap, Clinodac... ORPHA:1106
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Respiratory failure, Ptosis, Dyspnea, Microcephaly, Respiratory i... ORPHA:352447
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
22Q11.2 Deletion Syndrome
Upslanted palpebral fissure, Foot polydactyly, Ptosis, Micrognathia, Microcephaly, Spina bifida, ... ORPHA:567
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Short thumb, Growth delay, Hypoplasia of the radius, Eyelid coloboma, Rad... OMIM:263750
Metatropic Dysplasia
Brachydactyly, Metaphyseal irregularity, Severe short stature, Abnormal metaphyseal vascular inva... OMIM:156530
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary infiltrates, Parenchymal consolidation, Pneumonia, Hypoxemia, Tach... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 2
Clubbing, Recurrent pneumonia, Ground-glass opacification, Nonspecific interstitial pneumonia, Hy... OMIM:610913
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Immotile cilia, Pneumonia, Chronic rhinitis, Bronchiectasis, Ciliary... OMIM:244400
Acrofrontofacionasal Dysostosis 2
Broad hallux, Hand polydactyly, Ptosis, Downslanted palpebral fissures, Microcephaly, Short statu... OMIM:239710
Bohring-Opitz Syndrome
Upslanted palpebral fissure, Hypertelorism, Intrauterine growth retardation, Agenesis of corpus c... OMIM:605039
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
20P12.3 Microdeletion Syndrome
Downslanted palpebral fissures, Hypoplasia of the maxilla, Short stature, Malar flattening, Broad... ORPHA:261295
20Q11.2 Microduplication Syndrome
Abnormal shape of the palpebral fissure, Short palm, Clinodactyly of the 5th finger, Severe intra... ORPHA:363659
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory failure OMIM:614299
Surfactant Metabolism Dysfunction, Pulmonary, 1
Clubbing, Ground-glass opacification, Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pu... OMIM:265120
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Curly eyelashes, Polydactyly, Microcephaly, Micrognathia, Short s... OMIM:301022
Pde4D Haploinsufficiency Syndrome
Ptosis, Micrognathia, Short toe, Mandibular prognathia, Narrow palpebral fissure, Brachydactyly, ... ORPHA:439822
Branchioskeletogenital Syndrome
Amelia involving the lower limbs, Hypertelorism, Blepharochalasis, Carious teeth, Highly arched e... ORPHA:1299
Intellectual Developmental Disorder, Autosomal Recessive 68
Broad eyebrow, Microcephaly, Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Narrow palpebra... OMIM:618302
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Proptosis, Rhizomelia, Micrognathia, Micromelia, Upper airway obstruction, Dumbbel... ORPHA:440354
Trisomy 12P
Proptosis, Clinodactyly of the 5th finger, Thick eyebrow, Micrognathia, Short stature, Malar flat... ORPHA:1699
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Broad hallux, Ulnar bowin... OMIM:304120
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Ptosis, Micrognathia, Microcephaly, Short stature, Malar prominence, Proptosis ORPHA:2522
Dyssegmental Dysplasia With Glaucoma
Micromelia, Flared metaphysis, Short stature, Malar flattening, Proptosis OMIM:601561
Chitayat Syndrome
Brachydactyly, Tracheomalacia, Short stature, Respiratory distress, Hallux valgus, Hypertelorism,... OMIM:617180
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Upslanted palpebral fissure, Severe short stature, Cerebellar hypoplasia, Optic nerve hypoplasia,... ORPHA:468631
Barber-Say Syndrome
Delayed eruption of teeth, Ablepharon, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelas... ORPHA:1231
Developmental And Epileptic Encephalopathy 48
Cerebral atrophy, Long eyelashes, Microcephaly, Long palpebral fissure, Hypoplasia of the corpus ... OMIM:617276
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Severe hydrocephalus, Intrauterine growth retardation, Agenesis of co... OMIM:236680
Gillessen-Kaesbach-Nishimura Syndrome
Telecanthus, Epicanthus, Micrognathia, Microcephaly, Retrognathia, Metaphyseal widening, Ulnar de... OMIM:263210
Developmental And Epileptic Encephalopathy 80
Upslanted palpebral fissure, Hypertelorism, Triphalangeal thumb, Tapered finger, Growth delay, Mi... OMIM:618580
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Short palpebral fissure, Hypertelorism, Intrauterine growth retardation, Ro... OMIM:208150
19P13.12 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Toe clinodactyly, Intrauterine growth retardation, Finger synd... ORPHA:254346
Iniencephaly
Myelomeningocele, Rhizomelia, Rocker bottom foot, Anencephaly, Holoprosencephaly, Spinal dysraphi... ORPHA:63259
Keipert Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Short hal... ORPHA:2662
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Ptosis, Respiratory insufficiency, Focal su... OMIM:256000
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Upslanted palpebral fissure, Hypoplasia of the corpus callosum, Progressive microcephaly, Thick e... OMIM:618737
Craniofacial-Deafness-Hand Syndrome
Blepharophimosis, Lacrimal duct atresia, Downslanted palpebral fissures, Hypoplasia of the maxill... ORPHA:1529
Developmental And Epileptic Encephalopathy 75
Proptosis, Upslanted palpebral fissure, Hypoplasia of the corpus callosum, Cerebral cortical atro... OMIM:618437
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Restrictive ventilatory defect, Ground-glass opacification, Reticular patt... ORPHA:99931
Vacterl With Hydrocephalus
Intrauterine growth retardation, Hypoplasia of the radius, Micrognathia, Spina bifida, Retrognath... ORPHA:3412
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Muenke Syndrome
Hydrocephalus, Carpal synostosis, Short palm, Ptosis, Malar flattening, Tarsal synostosis, Hypert... ORPHA:53271
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Pterygium, Severe short stature, Miscarriage, Micrognathia, Micromelia, Talip... ORPHA:1865
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Microcephaly, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Talipes equinovarus, ... OMIM:617481
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Respiratory failure, Cerebral atrophy OMIM:600333
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tracheomalacia, Micrognathia, Hallux valgus, Metaphyseal widening, Dentinogenesis imperfecta, Bow... ORPHA:536467
Manitoba Oculotrichoanal Syndrome
Hypertelorism, Nasolacrimal duct obstruction, Eyelid coloboma OMIM:248450
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Intermediate Nemaline Myopathy
Hypertelorism, Respiratory failure ORPHA:171433
Charge Syndrome
Clinodactyly of the 5th finger, Ptosis, Highly arched eyebrow, Microcephaly, Dandy-Walker malform... ORPHA:138
Sweeney-Cox Syndrome
Cutaneous syndactyly, Cerebellar hypoplasia, Micrognathia, Long fingers, Upper eyelid coloboma, H... OMIM:617746
Yunis-Varon Syndrome
Upslanted palpebral fissure, Cerebellar hypoplasia, Abnormality of dental structure, Tapered fing... ORPHA:3472
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, 4-5 finger syndactyly, Clinodactyly of the 5th finger, Absent ey... ORPHA:158687
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal cerebral morphology, Respiratory failure, Central sleep apnea, Focal T2 hyperintense bas... ORPHA:70472
Cole-Carpenter Syndrome 2
Downslanted palpebral fissures, Short stature, Microretrognathia, Hydrocephalus, Postnatal growth... OMIM:616294
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Long toe, Respiratory failure, Epicanthus, Large placenta, Campt... ORPHA:254528
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia, Porencephalic cyst, Eyelid col... OMIM:613001
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Cone-shaped epiphyses of the pha... ORPHA:2484
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Long toe, Respiratory failure, Micrognathia, Adducte... ORPHA:75840
Bronchogenic Cyst
Pneumonia, Cough, Dyspnea, Atelectasis, Abnormal pulmonary thoracic imaging finding ORPHA:2357
Peroxisome Biogenesis Disorder 4A (Zellweger)
Upslanted palpebral fissure, Respiratory failure, Death in infancy, Epicanthus inversus, Hypertel... OMIM:614862
Farber Disease
Abnormal conjunctiva morphology, Atelectasis, Short stature, Short finger, Diffuse reticular or f... ORPHA:333
X-Linked Intellectual Disability, Sutherland-Haan Type
Upslanted palpebral fissure, Microcephaly, Hypoplasia of the maxilla, Short stature, Mandibular p... ORPHA:93950
Spinocerebellar Ataxia-Dysmorphism Syndrome
Proptosis, Epicanthus, Ptosis, Short stature, Spina bifida occulta, Aplasia/Hypoplasia of the cer... ORPHA:1185
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Deeply set eye, Clinodactyly, Short palm, Tapered finger, Microcephaly, Hypoplasia of the maxilla... ORPHA:85279
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Ulnar deviation of the hand or of fingers of the hand, Malar flattenin... OMIM:122880
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pattern of respiration, Cough, Re... ORPHA:724
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Respiratory failure, Dyspnea, Arachnodactyly, Downslanted palpebr... ORPHA:2759
Vacterl Association With Hydrocephalus
Absent thumb, Radial club hand, Respiratory failure, Hydrocephalus, Respiratory insufficiency, Aq... OMIM:276950
Mycophenolate Mofetil Embryopathy
Foot polydactyly, Short palm, Tracheomalacia, Agenesis of corpus callosum, Micrognathia, Eyelid c... ORPHA:268249
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Hypertelorism, Cryptophthalmos, Short metacarpal, Absent eyelashes, Ablepharon, A... OMIM:200110
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Adducted thumb, Neonatal death, Death in infancy OMIM:619334
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the 2nd toe, Blepharophimosis, Cone-shaped epiphyses of the 3rd toe, Pto... ORPHA:397973
Raine Syndrome
Bowing of the long bones, Brachydactyly, Cerebral calcification, Enamel hypoplasia, Highly arched... OMIM:259775
Chops Syndrome
Brachydactyly, Hypertelorism, Long eyelashes, Thick eyebrow, Short stature, Chronic lung disease,... OMIM:616368
Multiple Pterygium-Malignant Hyperthermia Syndrome
Hypotelorism, Finger syndactyly, Advanced eruption of teeth, Severe short stature, Tapered finger... ORPHA:2215
Distal Monosomy 10Q
Clinodactyly, Upslanted palpebral fissure, Cerebellar hypoplasia, Sandal gap, Clinodactyly of the... ORPHA:96148
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Proptosis, Hypoplasia of the ulna, Finger syndactyly,... ORPHA:3258
Joint Laxity, Short Stature, And Myopia
Talipes equinovarus, Short stature, Restrictive ventilatory defect, Proptosis OMIM:617662
Avian Influenza
Nonproductive cough, Pulmonary infiltrates, Ground-glass opacification, Pneumonia, Hypoxemia, Tac... ORPHA:454836
Dysostosis, Stanescu Type
Bowing of the long bones, Brachydactyly, Cerebral calcification, Carious teeth, Micromelia, Micro... ORPHA:1798
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Respiratory failure, Ptosis, Exertional dyspnea, Orthopnea, Reduc... ORPHA:98913
Acrocardiofacial Syndrome
Proptosis, Toe syndactyly, Foot polydactyly, Intrauterine growth retardation, Finger syndactyly, ... ORPHA:2008
Dwarfism, Familial, With Muscle Spasms
Severe short stature, Short stature, Proptosis OMIM:600771
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cerebral edema, Aspiration, Respiratory failure, Respiratory insufficiency, Abnormality of the te... ORPHA:258
Aarskog-Scott Syndrome
Finger syndactyly, Short palm, Hypertelorism, Delayed eruption of teeth, Clinodactyly of the 5th ... ORPHA:915
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Osteolytic def... OMIM:601812
20Q13.33 Microdeletion Syndrome
Upslanted palpebral fissure, Hypertelorism, Abnormality of limb bone morphology, Tapered finger, ... ORPHA:261311
Apert Syndrome
Hydrocephalus, Toe syndactyly, Finger syndactyly, Agenesis of corpus callosum, Delayed eruption o... ORPHA:87
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:608647
Caffey Disease
Respiratory insufficiency, Proptosis, Cortical thickening of long bone diaphyses ORPHA:1310
Donnai-Barrow Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Downslanted palpebral fissures, Umbilic... ORPHA:2143
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Proptosis, Ptosis OMIM:616592
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Deeply set eye, Cough, Delayed eruption of teeth ORPHA:2314
Baller-Gerold Syndrome
Bowing of the long bones, Abnormal carpal morphology, Hypotelorism, Proptosis, Intrauterine growt... ORPHA:1225
Fryns Syndrome
Chylothorax, Hypertelorism, Agenesis of corpus callosum, Stillbirth, Rocker bottom foot, Hypoplas... OMIM:229850
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Restrictive ventilatory defect, 2-3 toe syndactyly, Agenesis of corpus callosum, Tapered finger, ... OMIM:218000
Glycine Encephalopathy With Normal Serum Glycine
Long eyelashes, Respiratory failure, Ptosis, Microcephaly, Hand clenching, Retrognathia, Hypoplas... OMIM:617301
Marshall-Smith Syndrome
Shallow orbits, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Thick eyebrow, Highly arch... OMIM:602535
Prader-Willi Syndrome Due To Translocation
Clinodactyly, Upslanted palpebral fissure, Clinodactyly of the 5th finger, Clinodactyly of the 4t... ORPHA:177907
Kniest Dysplasia
Tracheomalacia, Disproportionate short-trunk short stature, Flared metaphysis, Malar flattening, ... OMIM:156550
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Proptosis, Hydrocephalus OMIM:612247
Shprintzen-Goldberg Craniosynostosis Syndrome
Dental malocclusion, Shallow orbits, Hypertelorism, Dislocated radial head, Metatarsus adductus, ... OMIM:182212
Marfanoid-Progeroid-Lipodystrophy Syndrome
Deeply set eye, Intrauterine growth retardation, Arachnodactyly, Downslanted palpebral fissures, ... OMIM:616914
Prolidase Deficiency
Recurrent pneumonia, Asthma, Ptosis, Micrognathia, Chronic lung disease, Hypertelorism, Proptosis OMIM:170100
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Toe syndactyly, Upslanted palpebral fissure, Bilateral camptodactyly, Growth delay, Long hallux, ... OMIM:619234
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Sandal gap, Clinodactyly of the 5th finger, Tapered finger, Ptosis, Micr... ORPHA:251014
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral edema, Respiratory failure, Myelopathy, Death in infancy, Leukoencephalopathy OMIM:617186
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Upslanted palpebral fissure, Recurrent pneumonia, Respiratory failure requiring assisted ventilat... ORPHA:496641
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Brachydactyly, Respiratory failure, Hypoplasia of the radius, Micromelia, Respiratory distress, P... OMIM:617895
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure, Short stature, Abnormality of the metaphysis, L... ORPHA:1861
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Mesoaxial polydactyly, Cerebellar hy... ORPHA:672
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Broad femoral neck, Res... OMIM:135100
Atelosteogenesis, Type I
Micrognathia, Encephalocele, Brachydactyly, Short metatarsal, Malar flattening, Short humerus, Hy... OMIM:108720
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Respiratory failure, Arachnodactyly, Hydrocep... OMIM:310400
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Ring Chromosome 13 Syndrome
Agenesis of corpus callosum, Aplasia/Hypoplasia of the thumb, Anencephaly, Partial absence of foo... ORPHA:96176
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Communicating hydrocephalus, Hypertelorism, Camptodactyly of finger, Te... ORPHA:2462
Marshall Syndrome
Cerebral calcification, Hypoplastic frontal sinuses, Sparse eyebrow, Micrognathia, Hypoplasia of ... ORPHA:560
Pediatric-Onset Graves Disease
Proptosis, Intrauterine growth retardation, Microcephaly, Neonatal asphyxia, Abnormal eyelid morp... ORPHA:525731
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Ai... ORPHA:1303
Acute Lung Injury
Pulmonary infiltrates, Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respiratory... ORPHA:178320
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Hyd... OMIM:612284
Fibrochondrogenesis
Brachydactyly, Proptosis, Camptodactyly of finger, Micromelia, Downslanted palpebral fissures, Sh... ORPHA:2021
Short Stature With Microcephaly And Distinctive Facies
Brachydactyly, Severe short stature, Short digit, Sparse eyebrow, Microcephaly, Short distal phal... OMIM:615789
Osteopetrosis, Autosomal Recessive 5
Cerebral atrophy, Respiratory failure, Growth delay, Micrognathia, Flared metaphysis, Microcephal... OMIM:259720
Ichthyosis, Congenital, Autosomal Recessive 4B
Proptosis, Short finger, Ectropion OMIM:242500
Optic Pathway Glioma
Proptosis, Growth delay, Hydrocephalus ORPHA:2086
Isolated Arrhinia
Hypertelorism, Hypoplasia of the nasal bone, Respiratory distress, Eyelid coloboma ORPHA:1134
Campomelic Dysplasia
Bowing of the long bones, Proptosis, Hypertelorism, Tracheomalacia, Fibular hypoplasia, Tibial bo... ORPHA:140
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Cerebral atrophy, Progressive microcephaly, Ptosis, Hypoplasia of th... OMIM:614261
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Crouzon Syndrome
Shallow orbits, Sleep apnea, Hypoplasia of the maxilla, Mandibular prognathia, Hypertelorism, Pro... OMIM:123500
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Proptosis, Shallow orbits, Metaphyseal widening, Hypertelorism, Recurrent aspiration pneumonia, T... ORPHA:73230
Myhre Syndrome
Clinodactyly, Thick eyebrow, Radial deviation of finger, Microcephaly, Short toe, Mandibular prog... OMIM:139210
Meckel Syndrome
Bowing of the long bones, Postaxial foot polydactyly, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:564
Ogden Syndrome
Cerebral atrophy, Aplasia/Hypoplasia of the eyebrow, Broad hallux, Downslanted palpebral fissures... ORPHA:276432
Pfeiffer Syndrome Type 2
Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Finger syndactyly, Tracheomalacia, Hypertelo... ORPHA:93259
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure OMIM:616867
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Carpal osteolysis, Telecanthus, Metacarpal osteolysis, Micrognathia, Camptodactyly of finger, Pro... ORPHA:2774
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Tachypnea, Cough, Respiratory distress OMIM:263000
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Deeply set eye, Hypoplasia of the corpus callosum, Talipes cavus equinovarus, Intrauterine growth... OMIM:300966
Hereditary Motor And Sensory Neuropathy, Type Iic
Hammertoe, Respiratory failure, Short stature, Stridor, Obstructive sleep apnea, Intercostal musc... OMIM:606071
Pentalogy Of Cantrell
Hydrocephalus, Encephalocele, Anencephaly, Abnormality of tibia morphology, Split hand, Aplasia/H... ORPHA:1335
Ritscher-Schinzel Syndrome 4
Deeply set eye, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypoplasia, Tapered finger,... OMIM:619435
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Clinodactyly, Overlapping fingers, Telecanthus, Tapered finger, Ptosis, Downslanted palpebral fis... OMIM:618975
Arboleda-Tham Syndrome
Genu varum, Hammertoe, Sandal gap, Thin eyebrow, Ptosis, Highly arched eyebrow, Microcephaly, Man... OMIM:616268
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Leukoencephalopathy, Respiratory failure, Central hypoventilation OMIM:618233
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebral atrophy, Respiratory failure, Abnormal periventricular white matter morphology, Hypoplas... OMIM:615838
Roberts-Sc Phocomelia Syndrome
Brachydactyly, Clinodactyly, Proptosis, Shallow orbits, Hand oligodactyly, Stillbirth, Severe int... OMIM:268300
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Proptosis ORPHA:90653
Ogden Syndrome
Proptosis, Cerebral atrophy, Long eyelashes, Sparse eyebrow, Epicanthus, Broad hallux, Palpebral ... OMIM:300855
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Proptosis, Femoral bowing, Micromelia, Abnormality of th... ORPHA:1860
Ablepharon Macrostomia Syndrome
Toe syndactyly, Cryptophthalmos, Absent eyelashes, Ablepharon, Growth delay, Absent eyebrow, Hypo... ORPHA:920
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Small hand... OMIM:170390
Nasopalpebral Lipoma-Coloboma Syndrome
Severe postnatal growth retardation, Clinodactyly of the 5th finger, Abnormal eyelash morphology,... ORPHA:2399
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Upslanted palpebral fissure, Short 3rd toe, Tapered finger, Short 4th toe, Proptosis OMIM:618707
Lateral Meningocele Syndrome
Proptosis, Hypertelorism, Craniofacial hyperostosis, Ptosis, Micrognathia, Downslanted palpebral ... ORPHA:2789
Juvenile Nasopharyngeal Angiofibroma
Proptosis, Epistaxis ORPHA:289596
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Flared metaphysis, Short middle phalanx of the 2nd finger, Short stature, H... OMIM:156510
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Proptosis OMIM:606893
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Abnormality of the diencephalon, Radial club hand, Microcephaly, Abnormality of th... ORPHA:2165
Meier-Gorlin Syndrome 4
Emphysema, Intrauterine growth retardation, Micrognathia, Microcephaly, Hypoplasia of the maxilla... OMIM:613804
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertelorism, Ptosis, Downslanted palpebral fissures, Malar flattening, Respiratory distress, Hy... ORPHA:1555
Craniofaciofrontodigital Syndrome
Proptosis, Finger joint hypermobility, Hypertelorism, Hyperintensity of cerebral white matter on ... ORPHA:363705
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Clubbing, Restrictive ventilatory defect, Reduced FEV1/FVC ratio,... ORPHA:79127
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Respiratory failure, Caudate atrophy ORPHA:363400
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Preaxial polydactyly, Micromelia, Postaxial polydactyly, Polymicrogyr... OMIM:616546
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Short metacarpal, Respiratory failure, Hypoplasia of the radius,... OMIM:266910
Zygomycosis
Epistaxis, Sinusitis, Pulmonary infiltrates, Parenchymal consolidation, Cough, Rhinorrhea, Pleura... ORPHA:73263
Atelosteogenesis Type I
Brachydactyly, Proptosis, Hypertelorism, Rhizomelia, Abnormality of fibula morphology, Micrognath... ORPHA:1190
Adult Acute Respiratory Distress Syndrome
Pulmonary infiltrates, Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Abnormal blood gas level ORPHA:70578
Frontorhiny
Brachydactyly, Hypoplastic frontal sinuses, Cranium bifidum occultum, Basal encephalocele, Aplasi... ORPHA:391474
Cohen Syndrome
Delayed puberty, Short metacarpal, Thick eyebrow, Cerebellar hypoplasia, Tapered finger, Microgna... OMIM:216550
Limb Body Wall Complex
Short umbilical cord, Bilateral talipes equinovarus, Aplasia of the proximal phalanges of the han... ORPHA:2369
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Proptosis, Coxa valga, Broad femoral neck, Micrognathia, Downslanted palpebral fissures, Malar fl... ORPHA:85184
Doors Syndrome
Abnormality of toe, Clinodactyly of the 5th finger, Microcephaly, Dandy-Walker malformation, Epic... ORPHA:79500
Yunis-Varon Syndrome
Clinodactyly, Upslanted palpebral fissure, Absent middle phalanx of 2nd finger, Aplasia/Hypoplasi... OMIM:216340
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Disproportionate short-trunk short stature, Microcephaly, Epicant... ORPHA:457395
Van Maldergem Syndrome 1
Clinodactyly, Short palpebral fissure, Dental malocclusion, Hypertelorism, Tracheomalacia, Short ... OMIM:601390
Leigh Syndrome With Cardiomyopathy
Abnormal caudate nucleus morphology, Basal ganglia gliosis, Global brain atrophy, Respiratory fai... ORPHA:70474
Oculoectodermal Syndrome
Growth delay, Eyelid coloboma, Limbal dermoid, Epicanthus, Proptosis OMIM:600268
Caudal Regression Syndrome
Talipes equinovarus, Arrhinencephaly ORPHA:3027
Hennekam-Beemer Syndrome
Upslanted palpebral fissure, Pneumonia, Camptodactyly of finger, Clinodactyly of the 5th finger, ... ORPHA:2135
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Epicanthus, Decreased growth hormone responses to growth hormone-releasing... OMIM:101800
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Oculotrichoanal Syndrome
Upper eyelid coloboma, Hypertelorism, Cryptophthalmos, Nasolacrimal duct obstruction ORPHA:2717
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Clinodactyly, Hypertelorism, Reduced forced expiratory volume in one second, Ptosis, Short statur... OMIM:613385
Aspergillosis
Sinusitis, Pulmonary infiltrates, Parenchymal consolidation, Pneumonia, Abnormality on pulmonary ... ORPHA:1163
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the corpus callosum, Tapered finger, Microcephaly, Epicanthus, Large hands,... ORPHA:192
Xylt1-Cdg
Clinodactyly, Coxa valga, Short femoral neck, Growth delay, Flared metaphysis, Microcephaly, Shor... ORPHA:370930
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Metacarpophalangeal joint contracture, Intrauterine growth ret... ORPHA:97297
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Distal Xq28 Microduplication Syndrome
Upper eyelid edema, Clinodactyly, Deeply set eye, Asthma, Aplasia/Hypoplasia of the eyebrow, Meta... ORPHA:293939
Alg1-Cdg
Cerebral atrophy, Respiratory failure, Progressive microcephaly ORPHA:79327
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory insufficiency, Respiratory failure, Limb undergrowth OMIM:273730
Radio-Renal Syndrome
Brachydactyly, Chylothorax, Short palm, Severe short stature, Respiratory failure, Hypoplasia of ... ORPHA:3015
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, Absent eyelashes, Clinodactyly of the 5th finger, Hypoplasia of the frontal ... OMIM:115150
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal distal phalanx morphology of finger, Severe short stature, Clinodactyly of the 5th finge... ORPHA:2636
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Pulmonary infiltrates, Restrictive ventilatory defect, Cough, Dyspnea, At... ORPHA:538
Van Maldergem Syndrome 2
Clinodactyly, Short palpebral fissure, Dental malocclusion, Hypertelorism, Tracheomalacia, Short ... OMIM:615546
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Short palpebral fissure, Delayed eruption of teeth, 4-5 finger synd... OMIM:257850
Apert Syndrome
Shallow orbits, Cerebellar hypoplasia, Rhizomelic arm shortening, Mandibular prognathia, Broad th... OMIM:101200
Mandibulofacial Dysostosis-Microcephaly Syndrome
Upslanted palpebral fissure, Micrognathia, Hypoplasia of the maxilla, Short stature, Preaxial han... ORPHA:79113
Fraser Syndrome 1
Abnormal cortical gyration, Hydrocephalus, Dental malocclusion, Myelomeningocele, Hypertelorism, ... OMIM:219000
Mohr Syndrome
Clinodactyly of the 5th finger, Agenesis of central incisor, Micrognathia, Bilateral postaxial po... OMIM:252100
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Short 5th metacarpal, Finger syndactyly, Short palm, Agenesis of corpus callosum,... ORPHA:264200
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Short metacarpal, Sandal gap, Flared femoral metaphysis, Short phalanx of finger, ... ORPHA:1427
Aicardi-Goutières Syndrome
Cerebral calcification, Degeneration of the striatum, Porencephalic cyst, Ptosis, Eyelid coloboma... ORPHA:51
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Thin corpus callosum, Respiratory failure, Tachypnea, Death in childhood, Atelectasis, Hypoplasia... OMIM:618278
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Delayed eruption of teeth, Short ... ORPHA:950
Donnai-Barrow Syndrome
Hypertelorism, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Downslante... OMIM:222448
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Micromelia, Disproportionate short stature, Microcephaly, Agenesis of cerebellar ve... OMIM:210710
Donohue Syndrome
Postnatal growth retardation, Large hands, Intrauterine growth retardation, Proptosis OMIM:246200
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Absent eyelashes, Clinodactyly of the 5th finger, Thick eyebrow, Ptosis,... ORPHA:228396
Oculocerebrorenal Syndrome Of Lowe
Deeply set eye, Upslanted palpebral fissure, Delayed eruption of teeth, Azoospermia, Carious teet... ORPHA:534
Beare-Stevenson Cutis Gyrata Syndrome
Agenesis of corpus callosum, Ptosis, Downslanted palpebral fissures, Malar flattening, Respirator... OMIM:123790
Microgastria-Limb Reduction Defects Association
Absent thumb, Fusion of the left and right thalami, Hypoplasia of the ulna, Hand oligodactyly, Ag... OMIM:156810
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Bifid distal phalanx of toe, Micrognathia, Small hand, Retrognathia, Brachydactyly,... OMIM:268310
Multicentric Osteolysis, Nodulosis, And Arthropathy
Proptosis, Hypertelorism, Distal tapering of metatarsals, Metatarsal osteolysis, Delayed eruption... OMIM:259600
Interstitial Lung Disease 1
Clubbing, Restrictive ventilatory defect, Nonspecific interstitial pneumonia, Ground-glass opacif... OMIM:619611
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Severe postnatal growth retardation, Respirato... ORPHA:98905
Tularemia
Pulmonary infiltrates, Pneumonia, Pleural effusion, Cough, Conjunctivitis, Respiratory distress, ... ORPHA:3392
Cornelia De Lange Syndrome 1
Pneumonia, Hand oligodactyly, Intrauterine growth retardation, 2-3 toe syndactyly, Dislocated rad... OMIM:122470
Fontaine Progeroid Syndrome
Cerebellar hypoplasia, Micrognathia, Absent distal phalanges, Microcephaly, Aplastic/hypoplastic ... OMIM:612289
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Long toe, Basal ganglia cysts, Respiratory failure, Tapered finger, ... OMIM:608836
Nestor-Guillermo Progeria Syndrome
Cavum septum pellucidum, Osteolytic defects of the distal phalanges of the hand, Sparse eyebrow, ... OMIM:614008
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Proptosis, Upslanted palpebral fissure, Sparse eyebrow, Arachnodactyly, Downslanted palpebral fis... OMIM:617011
Ear-Patella-Short Stature Syndrome
Intrauterine growth retardation, Severe short stature, Clinodactyly of the 5th finger, Respirator... ORPHA:2554
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Upslanted palpebral fissure, Toe clinodactyly, 2-3 toe syndactyly, Long toe, Rocker bottom foot, ... ORPHA:163979
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Microcephaly, Liss... ORPHA:96334
Leigh Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Respiratory failure, Growth delay, ... ORPHA:506
Popov-Chang syndrome
Clinodactyly of the 5th finger, Ptosis, Short stature, Small hand, Hydrocephalus, Proptosis, Shor... OMIM:618428
Chand Syndrome
Atelectasis, Agenesis of maxillary incisor, Hypertelorism, Short fifth metatarsal, Ankyloblepharon ORPHA:1401
Martsolf Syndrome 1
Tracheomalacia, Short palm, Short metacarpal, Broad fingertip, Short phalanx of finger, Metatarsu... OMIM:212720
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Pulmonary infiltrates, Restrictive ventilatory defect, Ground-glass opacific... ORPHA:60025
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Carpenter Syndrome 1
Genu varum, Aplasia/Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Complete d... OMIM:201000
Meier-Gorlin Syndrome 3
Genu varum, Recurrent pneumonia, Intrauterine growth retardation, Tracheomalacia, Patellar hypopl... OMIM:613803
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Hypertelorism, Tracheomalacia, Agenesis of corpus callosum, Cerebella... ORPHA:314679
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Stridor, Abnormal basal ganglia MRI signal intensity, Ab... ORPHA:444013
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Cerebellar hypoplasia, Subcortical white matter calcifications, Respiratory failure, Growth delay... ORPHA:3240
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Robinow Syndrome, Autosomal Dominant 3
Brachydactyly, Clinodactyly, Upslanted palpebral fissure, Dental malocclusion, Hypertelorism, Lon... OMIM:616894
Fanconi Anemia
Upslanted palpebral fissure, Abnormal thumb morphology, Abnormality of the ulna, Clinodactyly of ... ORPHA:84
Bloom Syndrome
Pneumonia, Severe postnatal growth retardation, Intrauterine growth retardation, Azoospermia, Res... ORPHA:125
Cohen Syndrome
Finger syndactyly, Intrauterine growth retardation, Long eyelashes, Sandal gap, Clinodactyly of t... ORPHA:193
Microgastria-Limb Reduction Defect Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Oligodactyly, Short thumb, Growth delay,... ORPHA:2538
Smith-Lemli-Opitz Syndrome
Upslanted palpebral fissure, Aplasia/Hypoplasia of the corpus callosum, Ptosis, Micrognathia, Mic... ORPHA:818
S-Adenosylhomocysteine Hydrolase Deficiency
Cerebellar hypoplasia, Hyperintensity of cerebral white matter on MRI, Respiratory failure, Growt... ORPHA:88618
Autosomal Dominant Robinow Syndrome
Upslanted palpebral fissure, Euryblepharon, Severe short stature, Clinodactyly of the 5th finger,... ORPHA:3107
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Thick eyebrow, Micrognathia, Metacarpophalangeal joint hyperextensibility, Hallux val... OMIM:245600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory failure, Ptosis, Atelectasis, Exertional dyspnea, Respiratory insufficie... ORPHA:365
Lujo Hemorrhagic Fever
Nonproductive cough, Cerebral edema, Crackles, Atelectasis, Rhinitis, Respiratory distress ORPHA:319213
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, Death in childhood OMIM:610505
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Hypertelorism, Severe short stature, Clinodactyly of the 5th finger, Me... OMIM:156400
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Ulnar bowing, Arachnodactyly, Upper airway obstruction, Malar flattening, Hum... OMIM:207410
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Finger syndactyly, Short palm, Hypertelorism, Aplasia/Hypop... ORPHA:93258
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Basal ganglia calcification, Respiratory failure, Tapered finger OMIM:616505
Arterial Tortuosity Syndrome
Short palpebral fissure, Abnormal zygomatic bone morphology, Coxa valga, Rocker bottom foot, Clin... ORPHA:3342
Autosomal Recessive Robinow Syndrome
Upslanted palpebral fissure, Clinodactyly of the 5th finger, Sandal gap, Ptosis, Micrognathia, Ep... ORPHA:1507
Roberts Syndrome
Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Mesomelic arm shortening,... ORPHA:3103
Hypomandibular Faciocranial Dysostosis
Upslanted palpebral fissure, Maxillozygomatic hypoplasia, Downslanted palpebral fissures, Death i... ORPHA:1790
Diffuse Alveolar Hemorrhage
Pulmonary infiltrates, Respiratory failure requiring assisted ventilation, Restrictive ventilator... ORPHA:90060
Cleft Velum
Hypoplasia of the maxilla, Aspiration pneumonia ORPHA:99772
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Confluent hyperintensity of cerebral white matter on MRI, Respiratory fail... ORPHA:280210
3-Methylglutaconic Aciduria Type 7
Cerebral atrophy, Abnormality of the basal ganglia, Respiratory failure, Growth delay, Primary mi... ORPHA:445038
Pfeiffer Syndrome Type 3
Proptosis, Toe syndactyly, Finger syndactyly, Tracheomalacia, Hypertelorism, Short hallux, Hallux... ORPHA:93260
Kniest Dysplasia
Abnormality of the epiphysis of the femoral head, Laryngotracheomalacia, Disproportionate short-t... ORPHA:485
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Brachydactyly, Upslanted palpebral fissure, Deeply set eye, Thick eyebrow, Micrognathia, Microcep... OMIM:300534
Acrocephalopolysyndactyly Type Iii
Shallow orbits, Broad hallux, Hypoplasia of the maxilla, Preaxial hand polydactyly, Lower limb un... OMIM:101120
H Syndrome
Upper eyelid edema, Proptosis, Chronic rhinitis, Azoospermia, Bronchiectasis, Short stature, Hall... ORPHA:168569
Pfeiffer Syndrome
Hydrocephalus, Finger syndactyly, Shallow orbits, Shortening of all middle phalanges of the finge... OMIM:101600
Fraser Syndrome 3
Micrognathia, Cryptophthalmos, Short toe, Cutaneous syndactyly OMIM:617667
Fibrochondrogenesis 1
Short palm, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Malar flattening, Dum... OMIM:228520
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micrognathia, Downslanted palpebral fissures, Postaxial hand polydactyly, Malar flattening, Death... OMIM:235255
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Agenesis of corpus callosum, Asthma, Cavum septum pellucidum, Respiratory fa... ORPHA:209905
Short Rib-Polydactyly Syndrome
Brachydactyly, Bowing of the long bones, Disproportionate shortening of the tibia, Intrauterine g... ORPHA:1505
Antley-Bixler Syndrome
Arachnodactyly, Downslanted palpebral fissures, Hypoplasia of the zygomatic bone, Camptodactyly o... ORPHA:83
Marshall-Smith Syndrome
Bowing of the long bones, Cerebellar hypoplasia, Retrognathia, Hypertelorism, Proptosis ORPHA:561
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Upslanted palpebral fissure, Hypoplasia of the corpus callosum, Progressive microcephaly, Agenesi... ORPHA:481152
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Telecanthus, Sparse eyebrow, Blepharophimosis, Highly arched eyebr... ORPHA:178303
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Constricting Bands, Congenital
Hand polydactyly, Eyelid coloboma, Talipes equinovarus, Encephalocele, Syndactyly OMIM:217100
Sclerosteosis 1
Dental malocclusion, Deviation of finger, Facial palsy secondary to cranial hyperostosis, Malar f... OMIM:269500
Aarskog-Scott Syndrome
Brachydactyly, Clinodactyly, Short palm, Elevated circulating luteinizing hormone level, Mild sho... OMIM:305400
Snakebite Envenomation
Hypopituitarism, Respiratory paralysis, Respiratory failure, Epistaxis ORPHA:449285
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hypoxemia, Intrauterine growth retardation, T... ORPHA:555874
Lethal Congenital Contracture Syndrome 2