Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus c... ORPHA:2570
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Dyspnea, Respiratory distress, Short nose, Proptosis, Respiratory failure, In... ORPHA:1832
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Spinal dysraphism, Anencephaly, Micr... ORPHA:1908
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Bulbous nose, Absent septum pellucidum, Hypoplasia of the corpus cal... OMIM:618492
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Proptosis, Small... OMIM:608716
Congenital Herpes Simplex Virus Infection
Intrauterine growth retardation, Microcephaly, Hydranencephaly ORPHA:293
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Proptosis, Short stature, Simplified gyral pattern, Intrauterine growth retarda... OMIM:616171
Treacher Collins Syndrome 4
Lower eyelid coloboma, Respiratory failure requiring assisted ventilation, Downslanted palpebral ... OMIM:618939
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Global brain atrophy, Central apnea, Respiratory insufficiency, Cerebral dysmyelination, Respirat... OMIM:611722
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Bulbous nose, Anteverted nares, Stillbirth, Microretrognathia, Narro... OMIM:236500
Asbestos Intoxication
Clubbing of fingers, Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory c... ORPHA:2302
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Neonatal death, Respiratory failure OMIM:301021
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Blepharophimosis, Stillbirth, Arrhinencephaly, Narrow palpebral fiss... OMIM:300073
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Neon... OMIM:619057
Tetralogy Of Fallot
Proptosis, Intrauterine growth retardation, Clinodactyly of the 5th finger, Brachydactyly, Abnorm... ORPHA:3303
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Abnormal lung morphology, Respiratory distress, Abnormal respi... ORPHA:70589
Pontocerebellar Hypoplasia Type 10
Highly arched eyebrow, Underdeveloped nasal alae, Growth delay, Long eyelashes, Proptosis, Wide n... ORPHA:411493
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Talipes equinovarus, Cerebral atrophy, Hand clenching, Respiratory insufficie... OMIM:611890
Nasopalpebral Lipoma-Coloboma Syndrome
Hypertelorism, Hypoplasia of the maxilla, Upper eyelid coloboma, Lower eyelid coloboma, Ectopic l... OMIM:167730
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Intrauterine ... OMIM:225790
Cherubism
Proptosis, Broad jaw, Upper airway obstruction, Obstructive sleep apnea, Abnormality of the mandible ORPHA:184
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Pneumothorax, Neona... ORPHA:70588
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Short nose, Deeply set eye, Hypoplasia of eyelid, Optic nerve hypoplasia, Short stat... OMIM:619321
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Respiratory insuff... OMIM:618291
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Deeply set eye, Abnormal digit morphology, Ptosis, Short stature, Spina bi... OMIM:268850
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Proptosis, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Short ... ORPHA:2370
Multiple Mitochondrial Dysfunctions Syndrome 3
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, R... OMIM:615330
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Hypertelorism, Anteverted nares, Upslanted palpebral fissure, Epicanthus, ... ORPHA:352490
49,Xxxxy Syndrome
Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Pulmonary embolism, Wide... ORPHA:96264
Filippi Syndrome
Cutaneous syndactyly, Underdeveloped nasal alae, Finger clinodactyly, Postnatal growth retardatio... OMIM:272440
Pontocerebellar Hypoplasia, Type 1C
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Respiratory insufficiency, Cereb... OMIM:616081
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Rhinorr... OMIM:615067
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Proptosis, Malar flattening, Small hand, Shor... ORPHA:85172
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevated broncho... OMIM:610978
Oculoauriculofrontonasal Syndrome
Hypertelorism, Underdeveloped nasal alae, Upper eyelid coloboma, Lipoma of corpus callosum, Micro... ORPHA:398156
Microhydranencephaly
Hypoplasia of the brainstem, Talipes equinovarus, Pachygyria, Cerebellar hypoplasia, Proptosis, H... OMIM:605013
Frontofacionasal Dysplasia
Hypertelorism, Short nose, Blepharophimosis, Hypoplasia of the corpus callosum, Upper eyelid colo... ORPHA:1791
Burn-Mckeown Syndrome
Hypertelorism, Blepharophimosis, Underdeveloped nasal alae, Mandibular prognathia, Lower eyelid c... OMIM:608572
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Spondylometaphyseal Dysplasia, X-Linked
Hypertelorism, Anteverted nares, Short finger, Respiratory insufficiency, Severe short stature, W... OMIM:313420
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Broad thumb, Broad nasal tip, Aplasia/Hypoplasia of the eyebrow, Hyperte... ORPHA:1784
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Distal Monosomy 13Q
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Anencephaly, Abnorma... ORPHA:1590
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Hydrolethalus
Postaxial hand polydactyly, Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Deeply set ... ORPHA:2189
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Proptosis, Simplified gyral pattern OMIM:604804
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of finger, Blepharophimosis, Synostosis of carpal bones, Tra... ORPHA:896
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the brainstem, Cerebellar hypoplasia, Death in infancy, Respiratory failure, Microc... OMIM:225753
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hypertelorism, Choanal atresia, Respiratory insufficiency, ... ORPHA:93262
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Lower eyelid coloboma, Micrognathia, Malar flattening OMIM:248400
Shashi-Pena Syndrome
Highly arched eyebrow, Hypertelorism, Proptosis, Ptosis, Broad nasal tip, Retrognathia OMIM:617190
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Hydrolethalus Syndrome 2
Hydrocephalus, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Micrognathia, Agenesis o... OMIM:614120
Nager Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Lower eyelid coloboma, Aplasia/Hypoplasia of the r... ORPHA:245
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Focal T2 hyperintense basal ganglia lesion, Growth delay, Cerebral atrophy, Death in infancy, Res... OMIM:245400
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Proptosis, Basal ganglia calcification, Microcephaly, Prominent nasal bridge, Hypoplasia of the m... OMIM:608432
Pontocerebellar Hypoplasia, Type 3
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Cerebral atrophy, Cerebellar hypo... OMIM:608027
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Hypotel... OMIM:218670
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Pontocerebellar Hypoplasia, Type 10
Highly arched eyebrow, Short nose, Underdeveloped nasal alae, Hypoplasia of the corpus callosum, ... OMIM:615803
Chromosome 13Q33-Q34 Deletion Syndrome
Camptodactyly, Choanal atresia, Anencephaly, Short thumb, Micrognathia, Tapered finger, Agenesis ... OMIM:619148
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Cerebral atrophy, Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Micro... OMIM:610127
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Arrhinencephaly, Aqueductal stenosis... ORPHA:1788
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Rocker bottom foot, Hypoplasia of the corpus callosum, Camptodactyly, Spar... OMIM:618804
Vitamin K Antagonist Embryofetopathy
Hypertelorism, Short nose, Anteverted nares, Choanal atresia, Respiratory insufficiency, Short di... ORPHA:1914
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma, Micrognathia, Malar flattening OMIM:248390
Meckel Syndrome, Type 10
Narrow palpebral fissure, Epicanthus, Postaxial polydactyly, Anencephaly, Ptosis OMIM:614175
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Micrognathia, Death in infancy, Tracheomalacia, Meningocele, Cl... ORPHA:1393
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Thanatophoric Dysplasia
Downslanted palpebral fissures, Respiratory insufficiency, Proptosis, Pulmonary hypoplasia, Depre... ORPHA:2655
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Pachygyria, Split hand, Neuronal loss in the cerebral cortex, Cerebel... ORPHA:168486
Anophthalmia Plus Syndrome
Spina bifida, Hypertelorism, Blepharophimosis, Choanal atresia, Eyelid coloboma, Abnormal nasal m... ORPHA:1104
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Atelectasis, Chronic sinusitis OMIM:300455
Short-Rib Thoracic Dysplasia 12
Short toe, Hypertelorism, Holoprosencephaly, Short finger, Natal tooth, Epicanthus, Anencephaly, ... OMIM:269860
Toriello-Lacassie-Droste Syndrome
Agenesis of corpus callosum, Short nose, Blepharophimosis, Absent septum pellucidum, Anteverted n... ORPHA:3339
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Bowing of the long bones, Anenceph... OMIM:611134
Bartsocas-Papas Syndrome
Toe syndactyly, Short nose, Aplasia/Hypoplasia of the eyebrow, Finger syndactyly, Underdeveloped ... ORPHA:1234
3-Methylglutaconic Aciduria, Type Viii
Apnea, Hypoplasia of the corpus callosum, Growth delay, Cerebral atrophy, Death in infancy, Respi... OMIM:617248
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Hypertelorism, Short nose, Rhizomelia, Proptosis, Abno... ORPHA:168549
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... OMIM:614399
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Hypoplasia of the corpus callosum, Preaxial hand polydactyly, Microcephaly, Proptosis OMIM:601420
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Agene... ORPHA:1528
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Short nose, Anteverted nares, Hypertelorism, Upslanted palpebral fissure, Mesomelia,... OMIM:616331
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Short nose, Narrow palpebral fissure, Wide nasal bridge, Small hand, Ptosis, Sho... OMIM:615873
Autosomal Recessive Distal Osteolysis Syndrome
Proptosis, Short distal phalanx of finger, Short stature, Broad nasal tip, Hypoplasia of the maxilla ORPHA:2776
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Cerebral atrophy, Respiratory failure OMIM:618637
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Partial agenesis of the corpus callosum, Proptosis, Short stature, Intrauterine growth retardatio... OMIM:618346
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Short stature, Hypoplasia of the capital femoral epiphysis OMIM:600561
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Micrognathia, Rocker bottom foot, Limb undergrowth, Clinodac... OMIM:256520
Jacobsen Syndrome
Hypertelorism, Short nose, Anteverted nares, Holoprosencephaly, Abnormal eyelash morphology, Epic... OMIM:147791
Multiple Synostoses Syndrome 3
Cutaneous syndactyly of toes, Humeroradial synostosis, Broad thumb, Hallux varus, Metacarpal syno... OMIM:612961
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Growth delay, Atelectasis, Recurrent pneumonia OMIM:268500
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Growth delay, Death in infanc... ORPHA:1194
Hyperekplexia 4
Camptodactyly, Cerebral atrophy, Umbilical hernia, Respiratory failure, Talipes equinovarus, Addu... OMIM:618011
Trisomy 18
Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Hypertelorism, Aplasia/Hypopla... ORPHA:3380
Immunodeficiency 54
Postnatal growth retardation, Respiratory insufficiency, Adrenocorticotropic hormone excess, Resp... OMIM:609981
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Saul-Wilson Syndrome
Talipes equinovarus, Short metatarsal, Postnatal growth retardation, Short distal phalanx of fing... OMIM:618150
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Ring Chromosome 6 Syndrome
Hypertelorism, Epicanthus, Respiratory insufficiency, Short distal phalanx of finger, Wide nasal ... ORPHA:1448
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypertelorism, Hydrocephalus, Absent extraocular muscles, Proptosis, Telecanthus, Short stature, ... OMIM:109120
Desbuquois Dysplasia 1
Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Short femoral neck,... OMIM:251450
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Intr... OMIM:603194
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Orbital cyst, Eyelid coloboma, Agenesis of corpus callosum, Da... OMIM:164180
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Hartsfield Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Split hand, Aplasia/Hypoplasia of the r... ORPHA:2117
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hypertelorism, Short nose, Hydrocephalus, Hypoplasia of the corpus callosum, Long eyelashes, Prop... OMIM:618577
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Hypertelorism, Broad hallux phalanx, Mandibular prognathia, Bro... ORPHA:1540
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Frias Syndrome
Hypertelorism, Proptosis, Ptosis, Short stature, Downslanted palpebral fissures, Micrognathia OMIM:609640
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short nose, Short metacarpal, Wide nasal bridge, Proptosis, Short stature... OMIM:614078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Cerebellar hypop... OMIM:615287
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly ORPHA:2476
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Crouzon Disease
Hypertelorism, Cerebellar hypoplasia, Choanal atresia, Respiratory insufficiency, Proptosis, Conj... ORPHA:207
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Blepharophimosis, Growth delay, Upslanted palpebral fissure, Thin ... ORPHA:2707
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Hypertelorism, Short nose, Anteverted nares, Limb undergrowth, Proptosis, Coarse metaphyseal trab... OMIM:618961
Isolated Brachycephaly
Metacarpal synostosis, Hypertelorism, Brachydactyly, Proptosis ORPHA:35099
Frontonasal Dysplasia 3
Hypertelorism, Underdeveloped nasal alae, Upper eyelid coloboma, Absent eyebrow, Wide nasal bridg... OMIM:613456
Congenital Muscular Dystrophy With Intellectual Disability
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Cerebellar v... ORPHA:370968
Schisis Association
Spina bifida, Anencephaly, Microcephaly, Tracheoesophageal fistula, Micromelia ORPHA:63862
Frontoocular Syndrome
Blepharophimosis, Hypotelorism, Upslanted palpebral fissure, Epicanthus, Proptosis, Short palpebr... OMIM:605321
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypoplasia of the brainstem, Hypertelorism, Hypoplasia of the corpus callosum, Epicanthus, Umbili... OMIM:618354
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Sparse eyelashes, Lower eyelid coloboma, Trismus, Wide nasal b... OMIM:616367
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Hypoplasia of the ulna, Respiratory insufficiency, Neonatal death, Syndactyly, Respira... OMIM:228940
Chitayat Syndrome
Hypertelorism, Respiratory distress, Anteverted nares, Tracheomalacia, Proptosis, Abnormal pulmon... OMIM:617180
Bartsocas-Papas Syndrome 1
Short phalanx of finger, Underdeveloped nasal alae, Ankyloblepharon, Absent eyebrow, Absent radiu... OMIM:263650
Oculocerebrocutaneous Syndrome
Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Hypertelorism, Finger syndactyly, Ce... ORPHA:1647
Acrocraniofacial Dysostosis
Hypotelorism, Natal tooth, Short 1st metacarpal, Proptosis, Metatarsus adductus, Ptosis, Short st... OMIM:201050
Robinow Syndrome, Autosomal Recessive 2
Broad thumb, Short nose, Anteverted nares, Hypertelorism, Camptodactyly, Long eyelashes, Mesomeli... OMIM:618529
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Hypertelorism, Mandibular prognathia, Upper eyelid coloboma, Short stature, Dental malocclusion, ... OMIM:603463
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Preaxial hand polydactyly, Pachygyria, Exencephaly, Broad thumb, Finger syndactyly, Hypertelorism... ORPHA:2211
Momo Syndrome
Delayed eruption of teeth, Hypertelorism, Taurodontia, Epicanthus, Large hands, Wide nasal bridge... OMIM:157980
Hypophosphatasia, Childhood
Carious teeth, Bowing of the legs, Short stature, Proptosis OMIM:241510
Desbuquois Syndrome
Abnormal femoral neck/head morphology, Camptodactyly of finger, Radioulnar synostosis, Abnormal e... ORPHA:1425
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Ectropion of lower eyelids,... ORPHA:246
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis, Bilateral ptosis ORPHA:254361
Momo Syndrome
Delayed eruption of teeth, Hypertelorism, Taurodontia, Epicanthus, Large hands, Short stature, Ey... ORPHA:2563
Muenke Syndrome
Broad thumb, Hypertelorism, Short middle phalanx of finger, Proptosis, Capitate-hamate fusion, Th... OMIM:602849
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Talon cusp, Aplasia/Hypoplasia of the corpus callosum, Short n... ORPHA:2409
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Gorlin-Chaudhry-Moss Syndrome
Hypertelorism, Abnormal eyelid morphology, Upper eyelid coloboma, Umbilical hernia, Abnormality o... ORPHA:2095
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Proptosis OMIM:187500
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Jacobsen Syndrome
Broad hallux phalanx, Death in infancy, Toe clinodactyly, Eyelid coloboma, Downslanted palpebral ... ORPHA:2308
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Underdeveloped nasal alae, Short distal phalanx of finger OMIM:601355
Yunis-Varon Syndrome
Tapered toe, Aplasia/Hypoplasia of the distal phalanges of the hand, Pulmonary arterial hypertens... OMIM:216340
Pelvis-Shoulder Dysplasia
Dislocated radial head, Spina bifida, Camptodactyly of finger, Mesomelic/rhizomelic limb shorteni... ORPHA:2839
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hypertelorism, Epicanthus, Postnatal growth retardation, Sandal gap, Proptosis, Thick eyebrow, Sy... OMIM:614800
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Sparse eyebrow, Hypertelorism, Sparse eyelashes, Finger clinodactyly, Un... ORPHA:306542
Acrofacial Dysostosis 1, Nager Type
Absent radius, Downslanted palpebral fissures, Triphalangeal thumb, Micrognathia, Hallux valgus, ... OMIM:154400
Acrocraniofacial Dysostosis
Broad thumb, Choanal atresia, Short distal phalanx of finger, Spina bifida occulta, Downslanted p... ORPHA:949
Isolated Cloverleaf Skull Syndrome
Malar flattening, Proptosis, Finger syndactyly ORPHA:2343
Rhizomelic Limb Shortening With Dysmorphic Features
Rhizomelia, Proptosis, Wide nasal bridge, Laryngomalacia, Short thumb, Clinodactyly of the 3rd fi... OMIM:618821
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Proptosis, Short stature, Microcephaly, Brachydactyly, Micromelia OMIM:122900
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Hydrolethalus Syndrome 1
Anencephaly, Micrognathia, Postaxial hand polydactyly, Preaxial hand polydactyly, Upper limb unde... OMIM:236680
Kleeblattschaedel
Hydrocephalus, Proptosis OMIM:148800
Chromosome 5P13 Duplication Syndrome
Hypertelorism, Bulbous nose, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Large han... OMIM:613174
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Polymicrogyria, Respiratory failure, Intrauterine growth retardation, Microcephaly OMIM:610678
20Q11.2 Microduplication Syndrome
Short nose, Palpebral edema, Abnormal shape of the palpebral fissure, Growth delay, Epicanthus, S... ORPHA:363659
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Polydactyly, Proptosis, Wide nasal bridge, Clinodactyly of the 5th finger, Short st... OMIM:301022
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Proptosis, Carpal osteolysis, Osteolysis involving ... OMIM:166300
Tyshchenko Syndrome
Sleep apnea, Hypoplasia of the corpus callosum, Proptosis, Ptosis, Short stature, Intrauterine gr... OMIM:615102
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Anencephaly, Lary... ORPHA:887
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Downslanted palpebral fissures, Bow... ORPHA:2050
Meckel Syndrome, Type 1
Natal tooth, Anencephaly, Cerebral hypoplasia, Micrognathia, Hydrocephalus, Postaxial hand polyda... OMIM:249000
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Disproportionate short stature, Fibular aplasia, Toe ... OMIM:260660
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Synostosis of carpal bones, Finger syndactyly, Proptosis, Ptosis, Short ... ORPHA:1323
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Neu-Laxova Syndrome
Cerebral calcification, Micrognathia, Pachygyria, Abnormal eyelid morphology, Large hands, Abnorm... ORPHA:2671
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Parenchymal consolidation, Pleural effusio... ORPHA:723
Diprosopus
Anencephaly ORPHA:1681
20P12.3 Microdeletion Syndrome
Broad thumb, Hypertelorism, Broad hallux phalanx, Epicanthus, Wide nasal bridge, Depressed nasal ... ORPHA:261295
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Choanal atresia, Optic nerve hypoplasia, Short foot, Eyelid... OMIM:607597
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Hypoplasia of the radius, Short nose, Anteverted nares, Hypoplasia of the corpus callosum,... OMIM:602613
Barber-Say Syndrome
Delayed eruption of teeth, Hypertelorism, Bulbous nose, Ectropion, Wide nasal bridge, Sparse or a... ORPHA:1231
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Respiratory insufficiency, Proptosis, Aplasia/Hypoplasia of the lungs, Depress... ORPHA:93274
Holoprosencephaly 11
Holoprosencephaly, Synophrys, Proptosis, Thick eyebrow, Microcephaly, Hypotelorism, Agenesis of c... OMIM:614226
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Cardiorespiratory arrest, Proptosis, Flared metaphysis, Short stature, Ul... ORPHA:93359
Acrofrontofacionasal Dysostosis 2
Broad thumb, Hand polydactyly, Hypertelorism, Proptosis, Ptosis, Syndactyly, Short stature, Downs... OMIM:239710
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Proptosis, Sparse and thin eyebrow, Short... OMIM:614008
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Proptosis, Flat capital femoral epiphysis, Abnormality of the metaphysi... ORPHA:157965
Trisomy 12P
Hypertelorism, Short nose, Epicanthus, Large hands, Proptosis, Wide nasal bridge, Clinodactyly of... ORPHA:1699
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Radioulnar synostosis, Ectropion, Growth delay, Choanal atresia, Hypopl... OMIM:263750
Developmental And Epileptic Encephalopathy 75
Hypertelorism, Short nose, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Upslanted... OMIM:618437
Frontofacionasal Dysplasia
Hypertelorism, Short nose, Blepharophimosis, Underdeveloped nasal alae, Midline defect of the nos... OMIM:229400
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Abnormal periventricular white matter morphology, Cortical dysplasia, Cere... ORPHA:468631
Gillessen-Kaesbach-Nishimura Syndrome
Hypertelorism, Underdeveloped nasal alae, Epicanthus, Proptosis, Pulmonary hypoplasia, Metaphysea... OMIM:263210
Desbuquois Dysplasia 2
Metaphyseal widening, Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Epicanthus, Sev... OMIM:615777
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Mandibular prognath... ORPHA:439822
Sweeney-Cox Syndrome
Hypertelorism, Underdeveloped nasal alae, Upper eyelid coloboma, Cerebellar hypoplasia, Choanal a... OMIM:617746
Bohring-Opitz Syndrome
Hypoplasia of the brainstem, Dislocated radial head, Hypertelorism, Overlapping toe, Mesomelic/rh... OMIM:605039
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Epicanthus, Wide nasal bridge, Respiratory failur... ORPHA:2759
Craniofacial-Deafness-Hand Syndrome
Lacrimal duct atresia, Camptodactyly of finger, Hypertelorism, Short nose, Blepharophimosis, Depr... ORPHA:1529
Metatropic Dysplasia
Flared femoral metaphysis, Abnormal metaphyseal vascular invasion, Short finger, Dumbbell-shaped ... OMIM:156530
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Tachypnea, Ventilator dependence with inability to wean, Inspiratory str... OMIM:604320
Keipert Syndrome
Short hallux, Broad distal phalanx of finger, Broad thumb, Hypertelorism, Broad hallux phalanx, E... ORPHA:2662
Branchioskeletogenital Syndrome
Highly arched eyebrow, Carious teeth, Hypertelorism, Broad nasal tip, Upper limb peromelia, Mandi... ORPHA:1299
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Pachygyria, Bulbous nose, Hypoplasia of the corpus callosum, Upslanted palpebral fissure, Subcort... OMIM:618737
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Hypertelorism, Hypoplastic frontal sinuses, Camptodactyly, Epicanthus... OMIM:136760
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Femur fracture, Growth delay, Proptosis, Hyperintensity of cer... OMIM:619322
22Q11.2 Deletion Syndrome
Carious teeth, Abnormal dental enamel morphology, Bulbous nose, Choanal atresia, Downslanted palp... ORPHA:567
Treacher-Collins Syndrome
Abnormal dental enamel morphology, Hypertelorism, Absent eyelashes, Branchial fistula, Blepharosp... ORPHA:861
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Slender long bones with narrow diaphyses, Metaphyseal striations, Deeply set eye, Di... OMIM:608154
Nasopalpebral Lipoma-Coloboma Syndrome
Lacrimal punctal atresia, Sparse eyebrow, Hypertelorism, Recurrent upper respiratory tract infect... ORPHA:2399
Developmental And Epileptic Encephalopathy 80
Triphalangeal thumb, Hypertelorism, Hypoplasia of the corpus callosum, Abnormal cerebral white ma... OMIM:618580
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Tarsal synostosis, Broad thumb, Death in infancy, Abnormality of th... ORPHA:1106
19P13.12 Microdeletion Syndrome
Hypertelorism, Finger syndactyly, Hypoplasia of the corpus callosum, Epicanthus, Synophrys, Sanda... ORPHA:254346
Charge Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of tibia morphology, Choanal atresia, Postnatal... ORPHA:138
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypertelorism, Respiratory... ORPHA:1134
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Phalangeal dislocation, Slender long bones with narrow diaphyses, Postnatal growth... ORPHA:536467
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory insufficiency due to muscle weakness, Ptosis, Respiratory failure, Microceph... ORPHA:352447
Chops Syndrome
Hypertelorism, Short nose, Long eyelashes, Proptosis, Laryngomalacia, Thick eyebrow, Chronic lung... OMIM:616368
Fetal Akinesia Deformation Sequence 1
Cavum septum pellucidum, Rocker bottom foot, Camptodactyly of finger, Short umbilical cord, Hyper... OMIM:208150
Mycophenolate Mofetil Embryopathy
Hypertelorism, Hydrocephalus, Tracheomalacia, Foot polydactyly, Eyelid coloboma, Bifid nose, Trac... ORPHA:268249
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Proptosis, Ptosis, Short stature, Microcephaly, Malar prominence, Micrognathia ORPHA:2522
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Porencephalic cyst, Agenesis of corpus callosum, Hypoplasia of the corpus callosu... OMIM:613001
Vacterl With Hydrocephalus
Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Aqueductal stenosis, Pulmonary hypoplasi... ORPHA:3412
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Broad thumb, Postnatal growth retardation, Respir... OMIM:304120
Raine Syndrome
Enamel hypoplasia, Mandibular prognathia, Natal tooth, Choanal atresia, Cerebral calcification, D... OMIM:259775
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Short finger, Abnormal larynx... ORPHA:333
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Spinocerebellar Ataxia-Dysmorphism Syndrome
Aplasia/Hypoplasia of the cerebellum, Short nose, Epicanthus, Proptosis, Ptosis, Short stature, S... ORPHA:1185
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Talipes equinovarus, Deeply set eye, Clinodactyly, Short stature, Microc... ORPHA:85279
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Dumbbell-shaped long bone, Proptosis, Brachydactyly, Upper airway obstru... ORPHA:440354
Dysostosis, Stanescu Type
Carious teeth, Abnormal dental enamel morphology, Hypertelorism, Micromelia, Bowing of the long b... ORPHA:1798
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Ablepharon-Macrostomia Syndrome
Toe syndactyly, Absent eyelashes, Hypertelorism, Absent eyebrow, Short metacarpal, Talipes equino... OMIM:200110
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Camptodactyly, Large placenta, Narrow palpebral fissure, Epicanthus, Postnatal g... ORPHA:254528
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Propto... OMIM:601812
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Donnai-Barrow Syndrome
Hypertelorism, Short nose, Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Proptosis... ORPHA:2143
Developmental And Epileptic Encephalopathy 48
Hypoplasia of the corpus callosum, Cerebral atrophy, Long eyelashes, Proptosis, Long palpebral fi... OMIM:617276
Distal Monosomy 10Q
Short metatarsal, Postnatal growth retardation, Sandal gap, Inferior vermis hypoplasia, Spina bif... ORPHA:96148
Dyssegmental Dysplasia With Glaucoma
Proptosis, Flared metaphysis, Short stature, Malar flattening, Micromelia OMIM:601561
Baller-Gerold Syndrome
Hypertelorism, Short nose, Hypotelorism, Growth delay, Bowing of the long bones, Epicanthus, Apla... ORPHA:1225
Crouzon Syndrome With Acanthosis Nigricans
Hypertelorism, Choanal atresia, Hydrocephalus, Proptosis OMIM:612247
Leigh Syndrome
Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Ptosis, Respiratory failure,... OMIM:256000
Muenke Syndrome
Tarsal synostosis, Hypertelorism, Carpal synostosis, Proptosis, Ptosis, Short foot, Malar flatten... ORPHA:53271
Cenani-Lenz Syndrome
Oligodactyly, Abnormal dental enamel morphology, Hypoplasia of the radius, Toe syndactyly, Radiou... ORPHA:3258
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Respiratory failure, Respiratory insufficiency OMIM:600333
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Restrictive ventilatory defect, Hypertelorism, Short nose, 2-3 toe s... OMIM:218000
Prader-Willi Syndrome Due To Translocation
Carious teeth, Anterior pituitary hypoplasia, Cerebral cortical atrophy, Micrognathia, Respirator... ORPHA:177907
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Proptosis, Cerebral... OMIM:617481
Marshall Syndrome
Genu valgum, Hypertelorism, Short nose, Sparse eyelashes, Anteverted nares, Hypoplastic frontal s... ORPHA:560
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Ptosis, Proptosis, Wide nasal bridge OMIM:616592
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Toe syndactyly, Respiratory distress, Finger syndactyly, Hallux varus,... ORPHA:93259
Melnick-Needles Syndrome
Delayed eruption of teeth, Hypertelorism, Craniofacial hyperostosis, Bowing of the long bones, Re... ORPHA:2484
20Q13.33 Microdeletion Syndrome
Abnormality of limb bone morphology, Highly arched eyebrow, Hypertelorism, Bulbous nose, Hypoplas... ORPHA:261311
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hypertelorism, Upslanted palpebral fissure, Death in infancy, Epicanthus inversus, Respiratory fa... OMIM:614862
Scedosporiosis
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Intermediate Nemaline Myopathy
Hypertelorism, Respiratory failure ORPHA:171433
Glycine Encephalopathy With Normal Serum Glycine
Talipes equinovarus, Apnea, Overlapping toe, Hypoplasia of the corpus callosum, Long eyelashes, P... OMIM:617301
Manitoba Oculotrichoanal Syndrome
Hypertelorism, Nasolacrimal duct obstruction, Eyelid coloboma OMIM:248450
Microcephaly-Capillary Malformation Syndrome
Hypertelorism, Short nose, Hypoplasia of the corpus callosum, Cerebral atrophy, Short distal phal... OMIM:614261
Lethal Acantholytic Erosive Disorder
2-3 finger syndactyly, 4-5 finger syndactyly, Absent eyelashes, Camptodactyly of toe, Natal tooth... ORPHA:158687
Acrocardiofacial Syndrome
Camptodactyly of finger, Toe syndactyly, Hypertelorism, Finger syndactyly, Split hand, Death in i... ORPHA:2008
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Cough, Deeply set eye, Atelectasis, Wide nasal bridge, Recurrent respi... ORPHA:2314
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Growth delay, Cerebral atrophy, Flared metaphysis, Respiratory failure, Short stature... OMIM:259720
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Talipes equinovarus, Severe short stature, Limb undergrowth, Respiratory ins... ORPHA:1865
Apert Syndrome
Delayed eruption of teeth, Broad thumb, Toe syndactyly, Hydrocephalus, Absent septum pellucidum, ... ORPHA:87
Aarskog-Scott Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Hypertelorism, Finger syndactyly, Epicanthus,... ORPHA:915
Short Stature With Microcephaly And Distinctive Facies
Talipes equinovarus, Anteverted nares, Microretrognathia, Severe short stature, Short distal phal... OMIM:615789
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Respiratory distress, Postaxial polydactyly, Proptosis, Syndactyly, Dep... OMIM:617895
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Cole-Carpenter Syndrome 2
Hypertelorism, Microretrognathia, Postnatal growth retardation, Proptosis, Short stature, Downsla... OMIM:616294
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
X-Linked Intellectual Disability, Sutherland-Haan Type
Upslanted palpebral fissure, Mandibular prognathia, Short stature, Microcephaly, Hypoplasia of th... ORPHA:93950
Ring Chromosome 13 Syndrome
Absent foot, Hypertelorism, Aplasia/hypoplasia involving bones of the hand, Growth delay, Epicant... ORPHA:96176
Yunis-Varon Syndrome
Sparse eyebrow, Slender long bones with narrow diaphyses, Postnatal growth retardation, Metatarsu... ORPHA:3472
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Pachygyria, Abnormality of the temporomandibular joint, Respiratory insufficienc... ORPHA:258
Vacterl Association With Hydrocephalus
Radial club hand, Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure... OMIM:276950
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Pulmonary hypoplasia, Talipes equinova... OMIM:612284
Campomelic Dysplasia
Hypertelorism, Bowing of the long bones, Hypoplasia of olfactory tract, Respiratory insufficiency... ORPHA:140
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Short metatarsal, Short phalanx of finger, Bulbous nose, Clinodactyly of the 5... OMIM:170390
Aspergillosis
Pleuritis, Bronchiectasis, Dacryocystitis, Cough, Pneumonia, Abnormal tracheobronchial morphology... ORPHA:1163
Marfanoid-Progeroid-Lipodystrophy Syndrome
Downslanted palpebral fissures, Deeply set eye, Proptosis, Long fingers, Narrow nose, Keratoconju... OMIM:616914
Prolidase Deficiency
Hypertelorism, Short nose, Proptosis, Chronic lung disease, Ptosis, Asthma, Recurrent pneumonia, ... OMIM:170100
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Talipes equinovarus, Dyspnea, Hypotelorism, Finger syndactyly, Hemiatrop... ORPHA:2215
Atelosteogenesis, Type I
Short metatarsal, Micrognathia, Disproportionate short-limb short stature, Depressed nasal bridge... OMIM:108720
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Increased laxity of fingers, Long toe, Slender finger, Respiratory failure, Adducte... ORPHA:75840
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Respiratory failure, Death in childhood, Adducted thumb OMIM:619334
Ogden Syndrome
Underdeveloped nasal alae, Microretrognathia, Cerebral atrophy, Postnatal growth retardation, Pro... ORPHA:276432
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Hypertelorism, Rhizomelia... ORPHA:1190
Pallister-Hall Syndrome
Broad thumb, Natal tooth, 3-4 finger cutaneous syndactyly, Pituitary hypothyroidism, Supernumerar... ORPHA:672
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Dwarfism, Familial, With Muscle Spasms
Short stature, Severe short stature, Proptosis OMIM:600771
Fibrochondrogenesis
Camptodactyly of finger, Hypertelorism, Anteverted nares, Respiratory insufficiency, Proptosis, D... ORPHA:2021
Pycnodysostosis
Delayed eruption of teeth, Abnormal pattern of respiration, Proptosis, Short distal phalanx of fi... ORPHA:763
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Metacarpal osteolysis, Proptosis, Wide nasal bridge, Carpal osteolysis, ... ORPHA:2774
Ogden Syndrome
Abnormal eyelid morphology, Underdeveloped nasal alae, Microretrognathia, Palpebral thickening, C... OMIM:300855
Fraser Syndrome 1
Underdeveloped nasal alae, Upper eyelid coloboma, Absent eyebrow, Malformed lacrimal duct, Hydroc... OMIM:219000
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Blepharophimosis, Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Mandib... ORPHA:397973
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Ptosis, Respiratory failure, Reduc... ORPHA:98913
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Toe syndactyly, Absent eyelashes, Underdeveloped nasal alae, Growth dela... ORPHA:920
Caffey Disease
Cortical thickening of long bone diaphyses, Respiratory insufficiency, Proptosis ORPHA:1310
Shprintzen-Goldberg Craniosynostosis Syndrome
Camptodactyly, Metatarsus adductus, Downslanted palpebral fissures, Shallow orbits, Micrognathia,... OMIM:182212
Kniest Dysplasia
Respiratory distress, Dumbbell-shaped long bone, Umbilical hernia, Tracheomalacia, Proptosis, Dis... OMIM:156550
Shprintzen-Goldberg Syndrome
Genu valgum, Camptodactyly of finger, Apnea, Hypertelorism, Bowing of the long bones, Umbilical h... ORPHA:2462
Iniencephaly
Mandibular aplasia, Rocker bottom foot, Spina bifida, Talipes equinovarus, Holoprosencephaly, Rhi... ORPHA:63259
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Sparse eyebrow, Hypertelorism, Hypoplasia of the corpus callosum, Growth delay, Upslanted palpebr... ORPHA:496641
Donnai-Barrow Syndrome
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Short nose, Umbilical hernia, Proptosis... OMIM:222448
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Respiratory failure, Short stature, Abnormality of the metaphysis, Communicatin... ORPHA:1861
Thanatophoric Dysplasia Type 1
Lethal short-limbed short stature, Short femur, Split hand, Bowing of the long bones, Respiratory... ORPHA:1860
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Overlapping fingers, Respiratory tract infection, Overlapping toe, Mandibular prognathia, Hand cl... OMIM:618975
Fryns Syndrome
Rocker bottom foot, Hypertelorism, Hypoplasia of the optic tract, Blepharophimosis, Microretrogna... OMIM:229850
Stickler Syndrome Type 1
Short nose, Proptosis, Hypoplasia of the maxilla ORPHA:90653
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertelorism, Respiratory distress, Anteverted nares, Choanal atresia, Umbilical hernia, Proptos... ORPHA:1555
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Talipes cavus equinovarus, Abnormality of the septum pellucidum, Hypertelorism, Bulbous nose, Mic... OMIM:300966
Hemorrhagic Fever-Renal Syndrome
Pleural effusion, Respiratory insufficiency, Atelectasis, Conjunctivitis, Hemoptysis, Pulmonary i... ORPHA:340
Myhre Syndrome
Mandibular prognathia, Narrow palpebral fissure, Camptodactyly, Respiratory insufficiency, Birth ... OMIM:139210
Joint Laxity, Short Stature, And Myopia
Talipes equinovarus, Restrictive ventilatory defect, Short stature, Proptosis OMIM:617662
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Talipes equinovarus, Toe syndactyly, Hypoplasia of the corpus callosum, Growth delay, Upslanted p... OMIM:619234
Cohen Syndrome
Genu valgum, Short metatarsal, Hypoplasia of the maxilla, Cerebellar hypoplasia, Macrodontia of p... OMIM:216550
Crouzon Syndrome
Sleep apnea, Hypertelorism, Abnormal nasopharynx morphology, Mandibular prognathia, Proptosis, Co... OMIM:123500
Fibrodysplasia Ossificans Progressiva
Short hallux, Short 1st metacarpal, Respiratory insufficiency, Basal ganglia calcification, Respi... OMIM:135100
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Fraser Syndrome 3
Tracheal atresia, Cryptophthalmos, Short toe, Cutaneous syndactyly, Micrognathia, Wide nose, Abno... OMIM:617667
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Slender toe, R... OMIM:310400
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Flattened femoral head, Increased size of nasopharyngeal adenoids, Toe cl... ORPHA:457395
Acrodysostosis
Delayed eruption of teeth, Hypoplasia of the radius, Short toe, Short metatarsal, Short nose, Ant... ORPHA:950
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Polymicro... OMIM:616546
Acrodysostosis 1 With Or Without Hormone Resistance
Short metatarsal, Short phalanx of finger, Mandibular prognathia, Elevated circulating thyroid-st... OMIM:101800
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Clubbing of fingers, Hypertelorism, Anteverted nares, Postnatal g... ORPHA:73230
Bohring-Opitz Syndrome
Apnea, Obstructive sleep apnea, Hypertelorism, Hypoplasia of the corpus callosum, Recurrent respi... ORPHA:97297
Pediatric-Onset Graves Disease
Abnormal eyelid morphology, Proptosis, Neonatal asphyxia, Intrauterine growth retardation, Microc... ORPHA:525731
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Short nose, Hypertelorism, Finger syndactyly, Mandibular pr... OMIM:101600
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Hypertelorism, Cyclopia, Holoprosencephaly, Abnormality of the radius, Proptosi... ORPHA:2165
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Hennekam-Beemer Syndrome
Camptodactyly of finger, Upslanted palpebral fissure, Long nose, Pneumonia, Respiratory insuffici... ORPHA:2135
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Roberts-Sc Phocomelia Syndrome
Underdeveloped nasal alae, Postnatal growth retardation, Abnormality of the metacarpal bones, Eye... OMIM:268300
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hypoplasia of the corpus callosum, Cerebral atrophy, Respiratory failure, Abnormal periventricula... OMIM:615838
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Hypoplasia of teeth, Underdeveloped nasal alae, Downslanted pa... OMIM:257850
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Retinal hamartoma, Recurrent respirato... ORPHA:538
Oculoectodermal Syndrome
Growth delay, Epicanthus, Proptosis, Wide nasal bridge, Eyelid coloboma, Limbal dermoid, Depresse... OMIM:600268
Combined Oxidative Phosphorylation Deficiency 37
Secondary microcephaly, Respiratory failure, Respiratory insufficiency OMIM:618329
Idiopathic Pulmonary Fibrosis
Clubbing of fingers, Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiecta... ORPHA:2032
Optic Pathway Glioma
Growth delay, Hydrocephalus, Proptosis ORPHA:2086
Renal Dysplasia-Limb Defects Syndrome
Hypoplasia of the radius, Fibular aplasia, Respiratory distress, Aplasia of the ulna, Neonatal de... OMIM:266910
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Postaxial hand polydactyly, Anencephaly, Bowing of the long bones OMIM:611561
Arboleda-Tham Syndrome
Mandibular prognathia, Sparse medial eyebrow, 3-4 finger cutaneous syndactyly, Sandal gap, Short ... OMIM:616268
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Ichthyosis, Congenital, Autosomal Recessive 4B
Short finger, Ectropion, Proptosis OMIM:242500
Mohr Syndrome
Metaphyseal irregularity, Micrognathia, Hydrocephalus, Depressed nasal bridge, Hypoplasia of the ... OMIM:252100
Popov-Chang syndrome
Long nose, Proptosis, Small hand, Ptosis, Short stature, Short foot, Clinodactyly of the 5th fing... OMIM:618428
Hemifacial Microsomia
Limbal dermoid, Hydrocephalus, Branchial anomaly, Blepharophimosis, Upper eyelid coloboma, Pulmon... OMIM:164210
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation, Leukoencephalopathy OMIM:618233
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Sleep apnea, Short distal phalanx of finger, Cerebral corti... ORPHA:192
Van Maldergem Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Pachygyria, Blepharophimosis, Short fourth metatarsal, H... OMIM:601390
Beare-Stevenson Cutis Gyrata Syndrome
Hypertelorism, Respiratory distress, Hydrocephalus, Anteverted nares, Choanal atresia, Proptosis,... OMIM:123790
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Anteverted nares, Subglottic stenosis, Pneumonia, Limb underg... OMIM:617809
Cardiofaciocutaneous Syndrome 1
Bulbous nose, Palpebral thickening, Absent eyebrow, Cerebral cortical atrophy, Downslanted palpeb... OMIM:115150
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Meier-Gorlin Syndrome 4
Emphysema, Birth length less than 3rd percentile, Short stature, Patellar aplasia, Intrauterine g... OMIM:613804
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Disproportionate short stature, Short phalanx of finger, Anteverted nares,... ORPHA:1427
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Hypertelorism, Mandibular prognathia, Megalencephaly, Upslanted palpebral fissure... OMIM:617011
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bulbous nose, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Downslanted pal... ORPHA:2636
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Short nose, Upslanted palpebral fissure, Epicanthus, Short stature, Se... ORPHA:79113
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ap... ORPHA:70474
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Intercostal muscle weakness, Respiratory failure, Short stature, Hammertoe, Obstructive ... OMIM:606071
Juvenile Nasopharyngeal Angiofibroma
Epistaxis, Proptosis ORPHA:289596
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Talipes equinovarus, Mandibular prognathia, Upslanted palpebral fissure, Deeply set eye, Large ha... OMIM:300534
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short middle phalanx of the 2nd finger, Short 5th metacarpal, Metaphyseal dysplasia, Flared metap... OMIM:156510
Cerebrofacioarticular Syndrome
Talipes equinovarus, Hypertelorism, Blepharophimosis, Hypoplasia of the corpus callosum, Camptoda... ORPHA:314679
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Toe syndactyly, Hypertelorism, Underdeveloped nasal alae, Finger syndactyly... ORPHA:264200
Distal Xq28 Microduplication Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Deeply set eye, Epistaxis, Metatar... ORPHA:293939
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Absent eyelashes, Microretrognathia, Thick eyebrow, Ptosis, Absent lacrima... ORPHA:228396
Doors Syndrome
Bulbous nose, Sirenomelia, Short distal phalanx of finger, Spina bifida occulta, Triphalangeal th... ORPHA:79500
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Broad thumb, Downslanted palpebral fissures, Short digit, Micrognath... OMIM:268310
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Cerebral atrophy, Caudate atrophy ORPHA:363400
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Short phalanx of finger, Camptodactyly, Micrognathia, Depressed nasal bridge, Upslan... OMIM:616894
Radio-Renal Syndrome
Hypoplasia of the radius, Dyspnea, Respiratory distress, Pleural effusion, Severe short stature, ... ORPHA:3015
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Meier-Gorlin Syndrome 3
Talipes equinovarus, Recurrent pneumonia, Dyspnea, Microretrognathia, Bronchomalacia, Tracheomala... OMIM:613803
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Van Maldergem Syndrome 2
Short 4th metacarpal, Hypertelorism, Blepharophimosis, Short fourth metatarsal, Hypoplasia of the... OMIM:615546
Lateral Meningocele Syndrome
Hypertelorism, Craniofacial hyperostosis, Epicanthus, Umbilical hernia, Proptosis, Meningocele, P... ORPHA:2789
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Toe syndactyly, Short nose, Finger syndactyly, Hallux varus, Hypertelo... ORPHA:93258
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Split hand, Choanal atre... ORPHA:818
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Short 5th finger, Underdeveloped nasal alae, Upslanted palpebral fissure, Bul... ORPHA:163979
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypertelorism, Camptodactyly, Choanal atresia, Recurrent respiratory infections, Proptosis, Clino... OMIM:613385
Hypomandibular Faciocranial Dysostosis
Short nose, Laryngeal hypoplasia, Upslanted palpebral fissure, Death in infancy, Proptosis, Abnor... ORPHA:1790
Fontaine Progeroid Syndrome
Mandibular prognathia, Death in infancy, Respiratory insufficiency, Short distal phalanx of finge... OMIM:612289
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Bulbous nose, Split hand, Interphalangeal joint erosions, Thin metatarsal ... OMIM:259600
Pentalogy Of Cantrell
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Anencephaly, Pulmo... ORPHA:1335
Pfeiffer Syndrome Type 3
Short hallux, Broad thumb, Toe syndactyly, Respiratory distress, Finger syndactyly, Hallux varus,... ORPHA:93260
2Q31.1 Microdeletion Syndrome
Abnormality of tibia morphology, Bulbous nose, Broad hallux phalanx, Sandal gap, Cerebral cortica... ORPHA:251014
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Limb undergrowth, Respiratory insufficiency OMIM:273730
Marshall-Smith Syndrome
Hypertelorism, Short nose, Bowing of the long bones, Choanal atresia, Cerebellar hypoplasia, Prop... ORPHA:561
Martsolf Syndrome 1
Talipes equinovarus, Short toe, Short phalanx of finger, Broad nasal tip, Epicanthus, Slender uln... OMIM:212720
Goldberg-Shprintzen Syndrome
Hypoplasia of the brainstem, Highly arched eyebrow, Pachygyria, Bulbous nose, Hypoplasia of the c... OMIM:609460
Meckel Syndrome
Postaxial hand polydactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:564
Oculotrichoanal Syndrome
Upper eyelid coloboma, Hypertelorism, Nasolacrimal duct obstruction, Cryptophthalmos ORPHA:2717
Antley-Bixler Syndrome
Camptodactyly of finger, Hypertelorism, Short nose, Anteverted nares, Choanal atresia, Proptosis,... ORPHA:83
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Spina bifida, Short umbilical cord, Hypertelorism,... ORPHA:2369
Fraser Syndrome
Abnormal lung lobation, Toe syndactyly, Midline nasal groove, Lacrimal duct aplasia, Finger synda... ORPHA:2052
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Femoral bowing, Short femur, Pachygyria, Enlarged metaphyses, Large hands, Short hu... OMIM:210710
Cornelia De Lange Syndrome 1
Choanal atresia, Pneumonia, Curly eyelashes, Micrognathia, Depressed nasal bridge, Dislocated rad... OMIM:122470
Xylt1-Cdg
Broad thumb, Growth delay, Synophrys, Proptosis, Clinodactyly, Flared metaphysis, Short stature, ... ORPHA:370930
Zygomycosis
Air crescent sign, Chemosis, Parenchymal consolidation, Pleural effusion, Cough, Acute infectious... ORPHA:73263
Autosomal Dominant Robinow Syndrome
Euryblepharon, Curly eyelashes, Downslanted palpebral fissures, Micrognathia, Wide nose, Depresse... ORPHA:3107
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Proptosis OMIM:606893
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Basal ganglia cysts, Bulbous nose, Respiratory distress, Tapered toe, Intracerebral perive... OMIM:608836
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Caudal Regression Sequence
Talipes equinovarus, Arrhinencephaly, Pulmonary hypoplasia ORPHA:3027
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Proptosis, Obtuse angle of mandible, Abnormal diaphysis morphology, Downslanted palpebral fissure... ORPHA:85184
Donohue Syndrome
Intrauterine growth retardation, Large hands, Postnatal growth retardation, Proptosis OMIM:246200
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Laryngeal stridor, Macrogyria, Respiratory failure, Abnormal morphology of... ORPHA:280210
Orofaciodigital Syndrome Type 4
Split hand, Choanal atresia, Aplasia/Hypoplasia of the tibia, Cerebral cortical atrophy, Microgna... ORPHA:2753
Ear-Patella-Short Stature Syndrome
Mandibular aplasia, Camptodactyly of finger, Dyspnea, Respiratory distress, Growth delay, Severe ... ORPHA:2554
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Spinal dysraphism, Camptodactyly, Postnatal growth retardation, Metatarsus... ORPHA:96334
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Pneumonia, Recurrent respiratory infections, Ptosis, Resp... ORPHA:98905
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Short 3rd toe, Deeply set eye, Upslanted palpebral fissure, Proptosis, Short 4th toe, Tapered finger OMIM:618707
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Postaxial hand polydactyly, Hypertelorism, Death in infancy, Proptosis, Wide nasal bridge, Pulmon... OMIM:235255
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Hypoplasia of the corpus callosum, Diffuse spongiform... ORPHA:506
Blomstrand Lethal Chondrodysplasia
Short nose, Anteverted nares, Rhizomelia, Natal tooth, Metaphyseal cupping, Bowing of the long bo... ORPHA:50945
Nablus Mask-Like Facial Syndrome
Highly arched eyebrow, Hypertelorism, Short nose, Blepharophimosis, Sparse eyelashes, Camptodacty... OMIM:608156
Treacher Collins Syndrome 1
Lacrimal duct stenosis, Hypoplasia of the pharynx, Upper eyelid coloboma, Lower eyelid coloboma, ... OMIM:154500
Oculocerebrorenal Syndrome Of Lowe
Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Genu valgum, Azoospe... ORPHA:534
Aicardi-Goutières Syndrome
Porencephalic cyst, Hypoplasia of the corpus callosum, Arrhinencephaly, Degeneration of the stria... ORPHA:51
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Respiratory distress, Pulmonary fibrosis, Growth delay, Elevated circula... ORPHA:209905
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thala... OMIM:156810
Fibrochondrogenesis 1
Short nose, Anteverted nares, Stillbirth, Rhizomelia, Camptodactyly, Dumbbell-shaped long bone, P... OMIM:228520
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebral edema, Respiratory failure, Death in infancy, Leukoencephalopathy OMIM:617186
Metaphyseal Chondrodysplasia, Jansen Type
Clubbing of fingers, Metaphyseal chondrodysplasia, Hypertelorism, Bowing of the long bones, Metap... OMIM:156400
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Camptodactyly, Choanal atresia, Proptosis, Malar fla... OMIM:207410
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibro... ORPHA:420741
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the brainstem, Broad thumb, Bulbous nose, Anteverted nares, Global brain atrophy, H... ORPHA:481152
Cohen Syndrome
Genu valgum, Abnormal eyelid morphology, Finger syndactyly, Abnormal eyelash morphology, Long eye... ORPHA:193
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Fanconi Anemia
Choanal atresia, Triphalangeal thumb, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of fingers,... ORPHA:84
Sclerosteosis 1
2-3 finger syndactyly, Hypertelorism, Mandibular prognathia, Proptosis, Wide nasal bridge, Depres... OMIM:269500
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Prominent nasal bridge, Diffuse white matter abnormalities, Sparse eyebrow, Hypertelorism, Mandib... ORPHA:457359
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Bulbous nose, Anteverted nares, Basal ganglia calcification, Respiratory failure, Tapered finger OMIM:616505
Robinow Syndrome, Autosomal Dominant 1
Bifid distal phalanx of toe, Broad thumb, Downslanted palpebral fissures, Micrognathia, Depressed... OMIM:180700
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Cerebellar hypoplasia, Subcortical white matter calcifications, Respiratory failure... ORPHA:3240
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Proportionate short stature, Short distal phalanx of toe, Respiratory fai... ORPHA:79345
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Hypertelorism, Mild short stature, Anteverted nar... OMIM:305400
Isolated Exencephaly
Aplasia/Hypoplasia of the cerebellum, Abnormality of facial skeleton, Holoprosencephaly, Posterio... ORPHA:563612
Bloom Syndrome
Respiratory tract infection, Chronic pulmonary obstruction, Azoospermia, Oligospermia, Growth del... ORPHA:125
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hypoplasia of the corpus callosum, Tachypnea, Respiratory insufficiency, Atelectasis OMIM:618278
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Abnormality of finger, Absent septum pellucidum, Arrhinencephaly, Grow... ORPHA:2538
Carpenter Syndrome 1
Camptodactyly, Metatarsus adductus, Spina bifida occulta, Micrognathia, Hypoplasia of the maxilla... OMIM:201000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Sandal gap, Metatarsus adductus, Downslanted palpebral fissures, Micrognathia, Hallux valgus, Hyd... OMIM:245600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short phalanx of finger, Bulbous nose, Broad phalanges of the hand, Micrognathia, Depressed nasal... ORPHA:508533
Craniosynostosis-Fibular Aplasia Syndrome
Respiratory insufficiency, Proptosis, Ptosis, Microcephaly, Fibular aplasia ORPHA:1533
Autosomal Recessive Robinow Syndrome
Broad thumb, Split hand, Broad hallux phalanx, Death in infancy, Sandal gap, Short distal phalanx... ORPHA:1507
Short Rib-Polydactyly Syndrome
Metaphyseal widening, Polydactyly, Disproportionate shortening of the tibia, Short finger, Bowing... ORPHA:1505
Chand Syndrome
Short fifth metatarsal, Hypertelorism, Ankyloblepharon, Agenesis of maxillary incisor, Atelectasi... ORPHA:1401
Roberts Syndrome
Underdeveloped nasal alae, Postnatal growth retardation, Sandal gap, Complete duplication of thum... ORPHA:3103
Distal Monosomy 9P
Hypertelorism, Short nose, Upslanted palpebral fissure, Epicanthus, Proptosis, Wide nasal bridge,... ORPHA:1642
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Camptodactyly of finger, Blepharophimosis, Sparse eyelashes, Finger syndac... ORPHA:178303
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Respiratory failure, Paroxysmal dyspnea, Stridor, Abnorma... ORPHA:444013
Wolf-Hirschhorn Syndrome
Short hallux, Aplasia/Hypoplasia of the cerebellum, Highly arched eyebrow, Talipes equinovarus, P... ORPHA:280
Keppen-Lubinsky Syndrome
Microcephaly, Micrognathia, Underdeveloped nasal alae, Proptosis OMIM:614098
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Arachnodactyly, Prominent nasal bridge, Hypoplasia of the maxilla OMIM:300676
H Syndrome
Abnormal eyebrow morphology, Azoospermia, Bronchiectasis, Camptodactyly, Proptosis, Delayed puber... ORPHA:168569
Arterial Tortuosity Syndrome
Rocker bottom foot, Dyspnea, Respiratory distress, Blepharophimosis, Cardiorespiratory arrest, Sh... ORPHA:3342
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Hypoplasia of the radius, Toe syndactyly, Bulbous nose, Wide nasal bridge, Short stature, Eyelid ... ORPHA:140952
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoplasia of the corpus callosum, Growth delay, Cerebellar hypoplasia, Hyperintensity of cerebra... ORPHA:88618
Kniest Dysplasia
Dumbbell-shaped femur, Disproportionate short stature, Laryngotracheomalacia, Enlarged metaphyses... ORPHA:485
Charge Syndrome
Choanal atresia, Postnatal growth retardation, Delayed puberty, Absent radius, Short thumb, Downs... OMIM:214800
Combined Oxidative Phosphorylation Deficiency 3
Intrauterine growth retardation, Death in childhood, Respiratory failure, Respiratory insufficiency OMIM:610505
Anti-Glomerular Basement Membrane Disease
Cough, Persistence of primary teeth, Respiratory insufficiency, Hemoptysis, Pulmonary infiltrates ORPHA:375
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Craniofaciofrontodigital Syndrome
Hypertelorism, Short nose, Proptosis, Short stature, Dental malocclusion, Anteverted nares, Depre... OMIM:114620
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Pulmonary arterial hypertension, Downslanted palpebral fissures, Micrognathia, Hypop... ORPHA:444077
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:555874
Meier-Gorlin Syndrome 7
Growth delay, Preaxial polydactyly, 2-3 toe syndactyly, Choanal atresia, Proptosis, Aplasia/Hypop... OMIM:617063
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Postnatal growth retardation, Micrognathia, Wide nose, Hypoplasia of the maxilla, Postaxial hand ... OMIM:213980
Prolidase Deficiency
Genu valgum, Carious teeth, Hypertelorism, Proptosis, Hypoplasia of the zygomatic bone, Micrognat... ORPHA:742
3-Methylglutaconic Aciduria Type 7
Growth delay, Cerebral atrophy, Primary microcephaly, Abnormality of the basal ganglia, Respirato... ORPHA:445038
Cleft Velum
Aspiration pneumonia, Hypoplasia of the maxilla ORPHA:99772
Maxillonasal Dysplasia
Short nose, Mandibular prognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the dist... ORPHA:1248
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Growth delay, Cough, Respiratory fai... ORPHA:1549
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... ORPHA:363417
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Bulbous nose, Anteverted nares, Hypertelorism, Unilateral ptosis, Mandibular prog... ORPHA:3063
Loeys-Dietz Syndrome 5
Hypertelorism, Congenital finger flexion contractures, Growth delay, Flexion contracture of toe, ... OMIM:615582
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Meier-Gorlin Syndrome 5
Clinodactyly, Birth length less than 3rd percentile, Irregular femoral epiphysis, Short stature, ... OMIM:613805
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Hypertelorism, Mandibular prognathia, Syndactyly, Lower l... OMIM:101120
Spondylospinal Thoracic Dysostosis