banner
Genes Phenotypes Help, News, Blog

Gene: Mn1 MGI:1261813

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
meningioma 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Mn1 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.

The table below shows human diseases associated to Mn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cebalid Syndrome
High palate, Polyphagia OMIM:618774
Meningioma, Familial, Susceptibility To
OMIM:607174

The table below shows human diseases predicted to be associated to Mn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, Micrognathia, Cleft palate, Mic... ORPHA:141152
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Wide anterior fontanel, Death in childhood, Lethargy, Death in infancy OMIM:619064
Perching Syndrome
Cyanosis, High palate, Dysphagia, Respiratory distress OMIM:617055
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Gingival fibromatosis, Respiratory distress, Gingival overgrowth, Dyspnea, Mandibul... ORPHA:1832
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Mandibular condyle hypoplasia, Dental crowding, Temp... OMIM:614669
Gaba-Transaminase Deficiency
Retrognathia, Death in childhood, Lethargy OMIM:613163
Orofacial Cleft 13
Oligodontia, Retrognathia, Micrognathia, Cleft soft palate OMIM:613857
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Cleft pa... ORPHA:2521
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Death in infancy, Restlessness, Lethargy, Aggressive behavior OMIM:605899
Craniosynostosis 2
Supernumerary tooth, Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Metopic syno... OMIM:604757
Tetrasomy 5P
Respiratory distress, Wide anterior fontanel, High palate, Micrognathia, Long philtrum, Cyanosis ORPHA:3309
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Wide anterior fontanel, High palate, Everted lower lip vermilion, Micr... OMIM:619736
Congenital Disorder Of Glycosylation, Type Iy
Micrognathia, Widely spaced teeth, Wide mouth, Respiratory distress OMIM:300934
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Cleft palate, Acrocyanosis ORPHA:2901
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, High palate, Death in infancy, Micrognathia, Thin upper lip vermilion OMIM:615042
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Long philtrum, Wide anterior fontanel, High palate, Flat acetabul... ORPHA:163649
Pontocerebellar Hypoplasia, Type 6
Narrow palate, Apnea, Lethargy, Death in childhood OMIM:611523
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Bilat... ORPHA:199306
Chromosome 16Q22 Deletion Syndrome
Wide anterior fontanel, High palate, Prominent metopic ridge, Micrognathia, Wormian bones OMIM:614541
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Anal ... ORPHA:2863
Craniometadiaphyseal Dysplasia
Genu valgum, Cubitus valgus, Wide anterior fontanel, Mandibular prognathia, Dental crowding, High... OMIM:269300
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Lethargy, Central apnea ORPHA:71277
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Anorexia, Lethargy ORPHA:79283
Congenital Myopathy 10A, Severe Variant
Cleft palate, High palate, Dysphagia, Respiratory distress OMIM:614399
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Micrognathia, Respiratory distress OMIM:300580
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Developmental And Epileptic Encephalopathy 30
Death in infancy, Motor stereotypy, Respiratory distress OMIM:616341
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Hao-Fountain Syndrome
Delayed cranial suture closure, Large fontanelles OMIM:616863
Brachydactyly, Type B1
Joint contracture of the hand, Wide anterior fontanel, Delayed cranial suture closure, Delayed er... OMIM:113000
Lethal Recessive Chondrodysplasia
Micrognathia, Macroglossia, Respiratory distress ORPHA:1423
Oromandibular Dystonia
Abnormality of the temporomandibular joint, Respiratory distress, Depression, Bruxism, Abnormal m... ORPHA:93958
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Fixed elbow flexion, Genu valgum, Dislocated radial head, Micrognathia, Knee f... ORPHA:166016
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Wide anterior fontanel, Micrognathia, Cleft palate, Downturned corners of m... OMIM:217980
Hypoglossia With Situs Inversus
Respiratory distress, Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia OMIM:612776
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Mitochondrial Complex I Deficiency, Nuclear Type 3
Death in childhood, Lethargy OMIM:618224
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Respiratory distress ORPHA:26792
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Prominent metopic ridge, Downturned corners o... OMIM:618779
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
Restrictive Dermopathy 2
Rectal prolapse, Respiratory distress, Hypoplastic facial bones, Microretrognathia, Cyanosis OMIM:619793
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Cleft palate, Short philtrum, Prominent metopic ridge ORPHA:85317
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Joint dislocation, Glossoptosis, Camptodactyly of finger, Abnormal mandible ... ORPHA:3201
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Dysphagia, Respiratory distress OMIM:613561
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Odontochondrodysplasia
Retrognathia, Respiratory distress, Delayed eruption of teeth, Death in infancy, Dentinogenesis i... ORPHA:166272
Orofaciodigital Syndrome Xix
Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro... OMIM:620107
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Primary Pulmonary Hypoplasia
Hypoxemia, Micrognathia, Cleft palate, Apnea, Tachypnea, Cyanosis ORPHA:2257
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Wide anterior fontanel, High palate, Micrognathia, Wormian bones ORPHA:85184
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Respiratory distress, Depression, Neuromuscular dysphagia, Apathy ORPHA:240085
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Death in childhood, Lethargy OMIM:618683
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Lethargy, Death in childhood OMIM:618225
Alfadhel Syndrome
Thin vermilion border, Retrognathia, Short philtrum, Nasal flaring, Smooth philtrum, Aggressive b... OMIM:620655
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Ectopic anus, W... ORPHA:85199
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Respiratory distress, Mandibular condyle hypoplasia, ... ORPHA:137888
Developmental And Epileptic Encephalopathy 41
Lethargy, Delayed eruption of teeth OMIM:617105
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Gomez-Lopez-Hernandez Syndrome
Thin vermilion border, Wide anterior fontanel, High palate, Smooth philtrum, Wormian bones, Crani... OMIM:601853
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death OMIM:615524
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Death in adolescence, Neonatal death, Dysphagia OMIM:619751
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Jaundice, Neonatal death, Respiratory distress OMIM:231680
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Birk-Barel Syndrome
Short philtrum, High palate, Reduced subcutaneous adipose tissue, Bifid uvula, Submucous cleft so... OMIM:612292
Pyruvate Dehydrogenase Deficiency
High palate, Dyspnea, Long philtrum, Tachypnea, Lethargy ORPHA:765
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Wide anterior fontanel, High palate, Pyloric stenosis, Motor stereotypy... ORPHA:457279
Grant Syndrome
Abnormal palate morphology, Large fontanelles, Joint dislocation, Open bite, Micrognathia, Wormia... ORPHA:2097
Oculocerebrofacial Syndrome, Kaufman Type
Retrognathia, High, narrow palate, Thin vermilion border, Short philtrum, Respiratory distress, D... ORPHA:2707
Parietal Foramina 1
Wormian bones, Cleft upper lip, Cleft palate OMIM:168500
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Respi... OMIM:254210
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Bifid uvula, Submucous cleft hard... OMIM:601492
Coffin-Siris Syndrome 6
Retrognathia, High, narrow palate, Short philtrum, Micrognathia, Cleft palate, Wormian bones, Dee... OMIM:617808
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, High palate, Death in infancy, Irregular respiration, Lethargy OMIM:604377
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Muscular Hypertonia, Lethal
Death in infancy, Respiratory distress OMIM:254120
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Macroglossia, Congenital hip dislocation, Delayed eruption of teeth OMIM:614450
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Congenital Myasthenic Syndrome
Sudden episodic apnea, High palate, Apneic episodes precipitated by illness, fatigue, stress, Cho... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, High palate, Apneic episodes precipitated by illness, fatigue, stress, Cho... ORPHA:98914
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Respi... OMIM:605809
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia, Lethargy ORPHA:95717
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin vermilion border, Micrognathia, Short philtrum, Respiratory distress ORPHA:261304
Mitochondrial Complex I Deficiency, Nuclear Type 5
Apnea, Lethargy, Dysphagia OMIM:618226
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Respiratory distress, Micrognathia, Smooth philtrum, Telangiectasia OMIM:608799
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Smooth philtrum, Esophageal atresia, Cleft soft palate OMIM:614526
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Wide anterior fontanel, Neonatal death, Palmoplantar cutis laxa, Central apnea OMIM:616482
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Respiratory distress, High palate, Death in infancy, Neonatal death OMIM:300219
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Peroxisome Biogenesis Disorder 5A (Zellweger)
Jaundice, Wide anterior fontanel, High palate, Death in adolescence, Death in infancy, Micrognath... OMIM:614866
Agnathia-Otocephaly Complex
Respiratory distress, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, Microglossia,... OMIM:202650
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Camptodactyly of finger, Long philtrum, ... ORPHA:178303
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Moebius Syndrome
Respiratory distress, High palate, Abnormality of the dentition, Micrognathia, Bifid uvula, Dysph... OMIM:157900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Micrognathia, Lethargy OMIM:614857
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Lethargy, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Micrognathia, Protrusio acetabuli, Dentinogenesis imperfecta, Wormian bones OMIM:259420
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Lethargy, Death in infancy OMIM:619386
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Cyanosis, High palate, Exertional dyspnea ORPHA:98913
Osteogenesis Imperfecta, Type Iv
Wormian bones, Otosclerosis, Dentinogenesis imperfecta OMIM:166220
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Micrognathia, Bifid uvula, Cleft palate, Respiratory distress OMIM:606164
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Lethargy ORPHA:163703
Robinow Syndrome, Autosomal Dominant 2
Calvarial osteosclerosis, Cleft soft palate, Triangular mouth, Dental crowding, Oligodontia, Ging... OMIM:616331
Dihydrolipoamide Dehydrogenase Deficiency
Death in childhood, Lethargy OMIM:246900
High Altitude Pulmonary Edema
Anorexia, Dyspnea, Hypoxemia, Orthopnea, Tachypnea, Cyanosis ORPHA:330012
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, High palate, Narrow mouth, Micrognathia, Dentinogenesis imperfecta, Wo... OMIM:613849
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Hypoplasia of the maxilla, Micrognathia, Patellar aplasia, Thick vermili... OMIM:613805
Neurogenic Arthrogryposis Multiplex Congenita
Micrognathia, Respiratory distress ORPHA:1143
Cree Mental Retardation Syndrome
Large fontanelles, Micrognathia, Cleft soft palate OMIM:606851
Mitochondrial Complex I Deficiency, Nuclear Type 6
Apnea, Lethargy OMIM:618228
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Macroglossia, High palate, Respiratory distress ORPHA:254864
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Widely patent coronal suture, Midgut malrotation, Talon cusp, ... ORPHA:2409
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Lethargy, Respiratory distress ORPHA:79312
Robinow Syndrome, Autosomal Recessive 2
Triangular mouth, Cleft soft palate, Gingival overgrowth, Abnormality of the dentition, Micrognat... OMIM:618529
Frontofacionasal Dysplasia
Orofacial cleft, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Malar flattening OMIM:229400
Gaucher Disease, Perinatal Lethal
Retrognathia, Everted upper lip vermilion, Purpura, Respiratory distress, Petechiae, Narrow mouth... OMIM:608013
Central Diabetes Insipidus
Depression, Polydipsia, Lethargy, Anorexia ORPHA:178029
Evans Syndrome
Jaundice, Petechiae, Dyspnea, Bruising susceptibility, Lethargy ORPHA:1959
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Genu valgum, Cubitus valgus, Solitary median maxillary central inciso... ORPHA:2712
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Microretrognathia, Respiratory distress ORPHA:89844
Ogden Syndrome
High, narrow palate, Everted upper lip vermilion, Lethargy, Microretrognathia ORPHA:276432
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large fontanelles, Abnormality of the wrist, Mandibular prognathia, Delayed cranial suture closur... ORPHA:2511
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Broad secondary alveolar ridge, High palate, Multiple suture craniosynostosis, Small anterior fon... ORPHA:3369
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the wrist, Genu valgum, Cleft soft palate, Irregular acetabular roof, Micrognathia... ORPHA:93316
Six2-Related Frontonasal Dysplasia
Wide anterior fontanel, Prominent palatine ridges, Metopic synostosis, Premature posterior fontan... ORPHA:488437
Amish Lethal Microcephaly
Micrognathia, Cleft soft palate, Death in infancy ORPHA:99742
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Lethargy, Motor stereotypy, Respiratory distress ORPHA:927
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Dysostosis, Stanescu Type
Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Toot... ORPHA:1798
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Gaucher Disease Type 2
Abnormal pattern of respiration, Dysphagia, Respiratory distress ORPHA:77260
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, High palate, Bifid uvula, ... OMIM:617412
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Lethargy ORPHA:276608
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Micrognathia, Cyanosis, High palate, Thin upper lip vermilion ORPHA:3304
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Cyclic Vomiting Syndrome
Anorexia, Attention deficit hyperactivity disorder, Lethargy OMIM:500007
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Lethargy, Respiratory distress OMIM:250940
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, High palate, Coronal craniosynostosis, Dentinogenesis imperfecta, Mi... OMIM:616294
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Protruding tongue, Apnea, Motor stereotyp... OMIM:619580
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Micrognathia, Cyanotic episode ORPHA:284417
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Tachypnea, Lethargy, Respiratory distress OMIM:614299
Isolated Exencephaly
Hypoplasia of the frontal bone, Abnormal facial skeleton morphology ORPHA:563612
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia, Lethargy ORPHA:276556
Orofaciodigital Syndrome Ii
High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ... OMIM:252100
Osteopathia Striata-Cranial Sclerosis Syndrome
Retrognathia, High, narrow palate, Large fontanelles, Delayed eruption of teeth, Delayed cranial ... ORPHA:2780
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Dyspnea, Hypoxemia, Addictive alcohol use, Tachypnea, Lethargy ORPHA:36238
Hydrolethalus
Retrognathia, Gingival cleft, Micrognathia, Bifid uvula, Cleft palate, Unilateral cleft lip, Subm... ORPHA:2189
Van Maldergem Syndrome 1
Wide anterior fontanel, High palate, Anal atresia, Irregular dentition, Hypoplasia of the maxilla... OMIM:601390
Osteogenesis Imperfecta, Type V
Wormian bones, Anterior radial head dislocation, Limited pronation/supination of forearm, Dentino... OMIM:610967
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
High, narrow palate, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Thick ve... OMIM:619880
Diaphanospondylodysostosis
Cleft palate, Respiratory distress ORPHA:66637
Odontochondrodysplasia 1
Respiratory distress, Delayed eruption of teeth, Death in infancy, Dentinogenesis imperfecta, Lon... OMIM:184260
Arthrogryposis, Distal, Type 3
High palate, Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Bifid uvula, Clef... OMIM:114300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, High palate, Respiratory distress OMIM:620011
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Dentinogenesis imperfecta ORPHA:166277
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia, Lethargy ORPHA:276575
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Cleft palate, Aplasia/H... ORPHA:306542
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Respiratory distress, High palate, Micrognathia, Apnea, Tented upper lip vermili... ORPHA:314655
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, High palate, Micrognathia, Dental malocclusion, Deep philtrum, Thin upper l... ORPHA:329178
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Lethargy ORPHA:276580
Hereditary Central Diabetes Insipidus
Polydipsia, Lethargy ORPHA:30925
Benign Samaritan Congenital Myopathy
Narrow mouth, Lethargy ORPHA:324581
Hyperinsulinism Due To Hnf1A Deficiency
Agitation, Polyphagia, Lethargy ORPHA:324575
N-Acetylglutamate Synthase Deficiency
Anorexia, Respiratory distress, Tachypnea, Lethargy, Aggressive behavior OMIM:237310
Pycnodysostosis
Narrow palate, Hypodontia, Persistence of primary teeth, Persistent open anterior fontanelle, Car... OMIM:265800
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Widely spaced teeth, Thick vermilion border, Respiratory distress OMIM:617102
Holocarboxylase Synthetase Deficiency
Anorexia, Tachypnea, Lethargy, Respiratory distress ORPHA:79242
Orofaciodigital Syndrome Type 10
Retrognathia, Tarsal synostosis, Cleft soft palate, Micrognathia, Long philtrum, Metatarsal synos... ORPHA:2756
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Head-banging, Mandibular prognathia, Unilateral cleft palate, Frequent... OMIM:619103
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Dysphagia, Respiratory distress ORPHA:240103
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Immunodeficiency 95
Respiratory distress OMIM:619773
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Neonatal death, Lethargy OMIM:618232
Osteogenesis Imperfecta, Type I
Wormian bones, Otosclerosis, Dentinogenesis imperfecta OMIM:166200
Pycnodysostosis
Obtuse angle of mandible, Hypodontia, Delayed cranial suture closure, High palate, Abnormality of... ORPHA:763
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Persistent op... ORPHA:357058
Fibrochondrogenesis 1
Stillbirth, Widely patent coronal suture, Wide anterior fontanel, Narrow mouth, Cleft palate, Lon... OMIM:228520
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy, Respiratory distress ORPHA:289916
Cryptogenic Organizing Pneumonia
Anorexia, Respiratory distress, Dyspnea, Hypoxemia, Cyanosis ORPHA:1302
Schilbach-Rott Syndrome
Narrow mouth, Micrognathia, Bifid uvula, Attention deficit hyperactivity disorder, Submucous clef... OMIM:164220
Classic Galactosemia
Depression, Attention deficit hyperactivity disorder, Jaundice, Lethargy ORPHA:79239
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Lethargy ORPHA:49827
Thyroid Dyshormonogenesis 1
Macroglossia, Lethargy OMIM:274400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones ORPHA:2787
X-Linked Centronuclear Myopathy
High palate, Respiratory distress ORPHA:596
Mitochondrial Pyruvate Carrier Deficiency
Long philtrum, Thin upper lip vermilion, Respiratory distress OMIM:614741
Antley-Bixler Syndrome
Delayed cranial suture closure, Narrow mouth, Camptodactyly of finger, Cleft palate, Elbow ankylo... ORPHA:83
Tetanus
Respiratory distress, Tachypnea, Dysphagia, Trismus ORPHA:3299
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Respiratory distress, Mandibular prognathia, High palate, Death in infancy, D... OMIM:620278
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Everted lower lip vermili... OMIM:616920
Multifocal Atrial Tachycardia
Tachypnea, Dyspnea, Lethargy ORPHA:3282
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cyanosis, Respiratory distress OMIM:263000
Orofaciodigital Syndrome Xvii
Retrognathia, High, narrow palate, Median cleft upper lip, Prominent metopic ridge OMIM:617926
Prader-Willi Syndrome Due To Translocation
Microdontia of primary teeth, Retrognathia, Abnormal temper tantrums, Respiratory distress, Head-... ORPHA:177907
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Branchial fistula, Branchial cyst, Trismus OMIM:609166
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis, Hyperventilation ORPHA:91359
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Large fontanelles, Delayed eruption of te... OMIM:257850
W Syndrome
Cubitus valgus, Upper lip pit, Submucous cleft hard palate, Elbow dislocation, Broad uvula, Agene... ORPHA:2804
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205
Silver-Russell Syndrome 2
Downturned corners of mouth, Micrognathia, Delayed closure of the anterior fontanelle OMIM:618905
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Tachypnea, Cleft palate, Submucous cleft hard palate, Cyanosis ORPHA:3426
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Potocki-Shaffer Syndrome
Wormian bones, Downturned corners of mouth, Short philtrum OMIM:601224
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Cole-Carpenter Syndrome 1
Microdontia, Coronal craniosynostosis, Micrognathia, Dentinogenesis imperfecta, Orbital craniosyn... OMIM:112240
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Death in childhood, Lethargy OMIM:615838
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide anterior fontanel, High palate, Carious teeth, Hypoplasia of teet... OMIM:607812
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Respiratory distress, Micrognathia, Cleft palate, Malar flattening, Deep phil... OMIM:610536
Stickler Syndrome, Type I
Arthritis, Arthropathy, Micrognathia, Bifid uvula, Cleft palate, Osteoarthritis, Pierre-Robin seq... OMIM:108300
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia OMIM:233910
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Macroglossia, Lethargy ORPHA:95716
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Loeys-Dietz Syndrome 5
Retrognathia, Cleft soft palate, High palate, Eosinophilic infiltration of the esophagus, Reduced... OMIM:615582
Hartsfield Syndrome
Cleft upper lip, Hypoplasia of the frontal bone, Cleft palate, Median cleft upper lip OMIM:615465
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Respiratory distress OMIM:616974
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Triangular mouth, Respiratory distress, Mandibular prognathi... ORPHA:98915
Lessel-Kreienkamp Syndrome
Dental malocclusion, Wide cranial sutures, Open mouth, Thin upper lip vermilion OMIM:619149
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Respiratory distress, Narrow mouth, Tooth agenesis, Cleft palate, Malar flattening... ORPHA:1555
Osteogenesis Imperfecta, Type Ix
Wormian bones, Dentinogenesis imperfecta OMIM:259440
Pleural Mesothelioma
Dyspnea, Dysphagia, Respiratory distress ORPHA:50251
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Abnormality of primary teeth, Incisor macrodontia, High palate, Tented uppe... ORPHA:438216
Carnitine Deficiency, Systemic Primary
Lethargy, Respiratory distress OMIM:212140
Cleft Soft Palate
Cleft soft palate OMIM:119570
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Retrognathia, Microdontia, Impulsivity, Eclabion, Wide mouth, Bruxism, Agitation, Excessive wrink... OMIM:619950
Rhizomelic Chondrodysplasia Punctata, Type 2
Large fontanelles, High palate, Micrognathia, Knee contracture, Hip contracture, Submucous cleft ... OMIM:222765
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Delayed eruption of teeth, Cutaneous photosensitivity, Wide anter... ORPHA:235
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Micrognathia, Unilateral cleft lip, Unilateral cleft palate OMIM:619122
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Dental crowding, Delayed cranial suture closure, Premature loss of teet... OMIM:608612
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Large fontanelles, Genu valgum, Delayed eruption of tee... ORPHA:1452
Van Maldergem Syndrome 2
Hip subluxation, Wide anterior fontanel, High palate, Irregular dentition, Hypoplasia of the maxi... OMIM:615546
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Necrotizing enterocolitis, Lethargy, Death in infancy OMIM:201475
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Isolated Atp Synthase Deficiency
Lethargy, Respiratory distress ORPHA:254913
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Narrow mouth, Mandibular aplasia, Microglossia ORPHA:990
Riboflavin Deficiency
Lethargy OMIM:615026
Osteogenesis Imperfecta, Type Xx
Narrow palate, Retrognathia, Mandibular prognathia, High palate, Tented upper lip vermilion, Worm... OMIM:618644
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory distress ORPHA:254875
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Recurrent mandibular subluxations, Wide anterior fontanel, Gingival hyperkeratosis, Gingival over... OMIM:225410
Laryngotracheoesophageal Cleft
Choking episodes, Impaired oropharyngeal swallow response, Cyanosis, Dyspnea ORPHA:2004
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Dyspnea, Respiratory distress ORPHA:464453
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Oligodontia, Exaggerated cupid's bow, Exaggerated median tongue furrow, High palate, Everted lowe... OMIM:608670
Succinic Acidemia
Respiratory distress OMIM:600335
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Exertional dyspnea, Lethargy ORPHA:42
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Abnormality of the philtrum, Dyspnea, Aplasia/Hypoplasia of the tongue, Abn... ORPHA:2759
Pachyonychia Congenita
Advanced eruption of teeth, Respiratory distress, Angular cheilitis, Natal tooth, Oral leukoplakia ORPHA:2309
Congenital Pulmonary Lymphangiectasia
Cyanosis, Respiratory distress ORPHA:2414
Idiopathic Intracranial Hypertension
Depression, Lethargy ORPHA:238624
Propionic Acidemia
Tachypnea, Apnea, Lethargy OMIM:606054
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Stillbirth OMIM:259410
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin vermilion border, Intestinal malrotation, Velopharyngeal insufficiency, Cleft palate, Cutis ... OMIM:614701
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Dravet Syndrome
Bradykinesia, Impulsivity, Cyanotic episode, Obsessive-compulsive trait ORPHA:33069
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Gingival overgrowth, Impulsivity, Apnea, Open mouth, Cyanosis, Lethargy OMIM:620423
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno... ORPHA:2751
Hereditary Angioedema Type 1
Abnormal soft palate morphology, Respiratory distress, Dyspnea, Abnormal uvula morphology, Urtica... ORPHA:100050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Respiratory distress, Tachypnea, Anteriorly placed anus, Lethargy, Episodic tachypnea ORPHA:26793
Breath-Holding Spells
Cyanosis OMIM:607578
Citrullinemia Type I
Tachypnea, Lethargy ORPHA:247525
Intellectual Developmental Disorder, Autosomal Dominant 73
Retrognathia, Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbi... OMIM:620450
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, High palate, Attention deficit hyperactivity disorder, Thick vermilion bord... OMIM:619383
Ear-Patella-Short Stature Syndrome
Retrognathia, High, narrow palate, Respiratory distress, Narrow mouth, Mandibular aplasia, Dyspne... ORPHA:2554
Malaria
Respiratory distress ORPHA:673
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Lethargy OMIM:614922
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, High palate, Death in infancy, Apnea, Lethargy OMIM:608836
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Respiratory distress, Gingival overgrowth, High palate, Narrow mouth, Bifid uvula,... OMIM:123790
Tarp Syndrome
Cyanosis, Glossoptosis, Micrognathia, Cleft palate, Pierre-Robin sequence, Abnormal duodenum morp... ORPHA:2886
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Short philtrum, Smooth philtrum, Cleft soft palate ORPHA:293725
Osteogenesis Imperfecta, Type Xxii
Wormian bones, Dentinogenesis imperfecta OMIM:619795
Radio-Renal Syndrome
Retrognathia, High, narrow palate, Respiratory distress, Dyspnea, Micrognathia, Downturned corner... ORPHA:3015
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachypnea, Cyanosis, Nasal flaring ORPHA:70587
Hsd10 Disease, Infantile Type
Cyanosis, Paroxysmal bursts of laughter, Dysphagia, Restlessness ORPHA:391428
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Respiratory distress ORPHA:1145
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Meningococcal Meningitis
Petechiae, Purpura, Lethargy, Anorexia ORPHA:33475
Surfactant Metabolism Dysfunction, Pulmonary, 3
Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Hypoxemia, Apnea, Neonatal d... OMIM:610921
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Craniosynostosis 4
Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Coronal craniosynostosis, Pansyn... OMIM:600775
Bronchopulmonary Dysplasia
Hyperoxemia, Dyspnea, Central apnea, Respiratory distress ORPHA:70589
Sweeney-Cox Syndrome
Short philtrum, Wide anterior fontanel, High palate, Narrow mouth, Median cleft palate, Anal atre... OMIM:617746
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Dyspnea, Dysphagia, Tongue a... OMIM:211530
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula OMIM:619239
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Respiratory distress, High palate, Smooth philtrum, Long philtrum, Submucous... OMIM:612863
Asbestos Intoxication
Exertional dyspnea, Dyspnea, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Otosclerosis 1
Otosclerosis OMIM:166800
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Swollen lip, Erythema, Respiratory distress ORPHA:100057
Dihydropyrimidinase Deficiency
Hyperactivity, Lethargy, Anal atresia OMIM:222748
Central Neurocytoma
Depression, Lethargy ORPHA:73256
Osteogenesis Imperfecta, Type Vii
Long philtrum, Wide anterior fontanel, Delayed cranial suture closure, Death in infancy, Protrusi... OMIM:610682
Choanal Atresia
Choking episodes, Cyanosis, Chronic sinusitis, Respiratory distress ORPHA:137914
Campomelic Dysplasia
Respiratory distress, Wide anterior fontanel, High palate, Narrow mouth, Irregular dentition, Car... OMIM:114290
Gapo Syndrome
High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Eruption failure, Delayed... OMIM:230740
Apert Syndrome
Narrow palate, Limited elbow movement, Large fontanelles, Lambdoidal craniosynostosis, Esophageal... OMIM:101200
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Lethargy, Hyperventilation OMIM:229700
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Diaphanospondylodysostosis
Micrognathia, Cleft palate, Respiratory distress OMIM:608022
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Carpal osteolysis, Delayed eruption of teeth, Gingival overgrowth, Wri... OMIM:259600
Surfactant Metabolism Dysfunction, Pulmonary, 1
Dyspnea, Death in infancy, Apnea, Neonatal death, Tachypnea, Cyanosis OMIM:265120
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Short hard palate, Elbow flexion contracture, High palate, Glos... OMIM:117650
Pitt-Hopkins Syndrome
Abnormal palate morphology, Hyperventilation, Aganglionic megacolon, Short philtrum, Tooth malpos... ORPHA:2896
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Recurrent Respiratory Papillomatosis
Respiratory distress, Dyspnea, Choking episodes, Dysphagia, Tachypnea ORPHA:60032
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,... ORPHA:1071
Silver-Russell Syndrome 1
Delayed cranial suture closure, Micrognathia, Downturned corners of mouth OMIM:180860
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Delayed cranial suture closure, Micrognathia ORPHA:1129
Congenital Diaphragmatic Hernia
Intestinal malrotation, Hypoxemia, Respiratory distress ORPHA:2140
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Polyphagia, Downturned corners of mouth, Skin-picking, Lethargy, Xerost... ORPHA:398079
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Lethargy, Short philtrum, Thin upper lip vermilion OMIM:607143
Esophageal Atresia
Respiratory distress, Episodic respiratory distress, Barrett esophagus, Esophagitis, Tracheoesoph... ORPHA:1199
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Glossitis, Stomatitis, High palate, Tracheoesophageal fistula, Lethargy, Thin upper lip vermilion OMIM:277380
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Lethargy OMIM:611590
Ramos-Arroyo Syndrome
Aganglionic megacolon, Respiratory distress, Smooth tongue, Narrow mouth, Carious teeth, Long phi... ORPHA:1051
Acute Lung Injury
Respiratory distress, Dyspnea, Hypoxemia, Addictive alcohol use, Tachypnea ORPHA:178320
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Compulsive behaviors, Impulsivity, Polyphagia, Downturned corners of mo... ORPHA:398069
Insulinoma
Polyphagia, Lethargy ORPHA:97279
Congenital Fibrinogen Deficiency
Cyanosis, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Cleft palate, Lethargy, Stomatitis ORPHA:79284
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Lethargy, Death in infancy OMIM:605711
Cdags Syndrome
Rectourethral fistula, Large fontanelles, Lambdoidal craniosynostosis, Rectovaginal fistula, Dela... OMIM:603116
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Micrognathia, Cleft palate, Unilateral cleft lip OMIM:616897
Susac Syndrome
Apathy, Lethargy ORPHA:838
Myhre Syndrome
Thin vermilion border, Gingival cleft, Mandibular prognathia, Narrow mouth, Hypoplasia of the max... ORPHA:2588
Schinzel-Giedion Syndrome
Retrognathia, Aganglionic megacolon, Short philtrum, Delayed eruption of teeth, Respiratory distr... ORPHA:798
ERI1-related disease
Limited elbow extension, Dislocated radial head, High palate, Velopharyngeal insufficiency, Micro... OMIM:608739
Microcephaly 30, Primary, Autosomal Recessive
Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate OMIM:620183
Restrictive Dermopathy 1
Stillbirth, Wide anterior fontanel, Prominent superficial blood vessels, Temporomandibular joint ... OMIM:275210
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Dengue Fever
Petechiae, Bruising susceptibility, Gingival bleeding, Lethargy ORPHA:99828
Laryngeal Abductor Paralysis
Cyanosis, Dysphagia OMIM:150260
Mogs-Cdg
Hypoventilation, Retrognathia, Respiratory distress, High palate, Apnea ORPHA:79330
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Rootless teeth, Mandibular prognathia, Abnormal dentin mor... ORPHA:1299
Trichinellosis
Apathy, Lethargy, Dysphagia, Trismus ORPHA:863
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Lethargy, Sudden episodic apnea ORPHA:159
Anaplastic Thyroid Carcinoma
Dyspnea, Dysphagia, Tracheoesophageal fistula, Respiratory distress ORPHA:142
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Conical tooth, Periorbital wrinkles, Respiratory distress, Everted l... OMIM:305100
Lateral Meningocele Syndrome
High, narrow palate, Dental crowding, High palate, Prominent metopic ridge, Micrognathia, Smooth ... ORPHA:2789
Alobar Holoprosencephaly
Solitary median maxillary central incisor, Central apnea, Depression, High palate, Cleft palate, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Solitary median maxillary central incisor, Central apnea, Depression, High palate, Cleft palate, ... ORPHA:93926
Lobar Holoprosencephaly
Solitary median maxillary central incisor, Central apnea, Depression, High palate, Cleft palate, ... ORPHA:93924
Semilobar Holoprosencephaly
Solitary median maxillary central incisor, Central apnea, Depression, High palate, Cleft palate, ... ORPHA:220386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Dysphagia, Respiratory distress OMIM:620375
Rubinstein-Taybi Syndrome 1
Narrow palate, Retrognathia, High, narrow palate, Respiratory distress, Hyperactivity, Wide anter... OMIM:180849
Otosclerosis 10
Otosclerosis OMIM:615589
Citrullinemia Type Ii
Hyperactivity, Restlessness, Mania, Abnormal eating behavior, Lethargy, Aggressive behavior ORPHA:247585
Mandibuloacral Dysplasia
Abnormal tongue morphology, Dental crowding, Delayed cranial suture closure, High palate, Hypopla... ORPHA:2457
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Saethre-Chotzen Syndrome
Narrow palate, Proximal radio-ulnar synostosis, Delayed cranial suture closure, Open bite, Hypopl... ORPHA:794
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Apnea, Tachypnea, Apathy, Lethargy ORPHA:20
Craniofaciofrontodigital Syndrome
Premature skin wrinkling, Respiratory distress, Gingival overgrowth, Prominent median palatal rap... ORPHA:363705
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Triangular mouth, Short philtrum, Respiratory distress, Dental crowding, High palat... OMIM:620369
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypodontia, Restlessness, Respiratory distress ORPHA:544503
Infantile Liver Failure Syndrome 2
Jaundice, Lethargy OMIM:616483
Diamond-Blackfan Anemia 10
Micrognathia, Cleft palate, Malar flattening, Respiratory distress OMIM:613309
Glutaric Acidemia Type 3
Lethargy, Impulsivity ORPHA:35706
Necrotizing Enterocolitis
Apnea, Cyanosis, Lethargy ORPHA:391673
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Macroglossia, Respiratory distress ORPHA:226313
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Fused cervical vertebrae, Esophageal atresia, Tracheoesophageal fistula, Submucous ... OMIM:619227
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Nipah Virus Disease
Anorexia, Respiratory distress ORPHA:99825
Marbach-Rustad Progeroid Syndrome
Hypodontia, Eruption failure, Narrow mouth, Micrognathia, Smooth philtrum, Wormian bones, Delayed... OMIM:619322
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Micrognathia, Submucous cleft soft palate, Cleft soft palate ORPHA:2282
Greig Cephalopolysyndactyly Syndrome
Metopic synostosis, Delayed cranial suture closure, Anal atresia, Craniosynostosis, Joint contrac... OMIM:175700
Tricuspid Atresia
Cyanosis ORPHA:1209
Hereditary Sensory And Autonomic Neuropathy Type 2
Wormian bones, Abnormality of the knee, Abnormality of the ankle ORPHA:970
Severe Acute Respiratory Syndrome
Hypoxemia, Dyspnea, Respiratory distress ORPHA:140896
Scrub Typhus
Dyspnea, Lethargy ORPHA:83317
Laryngomalacia
Respiratory distress OMIM:150280
Cleidocranial Dysplasia 1
Narrow palate, Supernumerary tooth, High, narrow palate, Respiratory distress, Absent frontal sin... OMIM:119600
1Q44 Microdeletion Syndrome
Thin vermilion border, Exaggerated cupid's bow, High palate, Prominent metopic ridge, Intestinal ... ORPHA:238769
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy, Respiratory distress OMIM:251000
Craniosynostosis 6
Bicoronal synostosis, Craniosynostosis, Right unilambdoid synostosis, Delayed cranial suture closure OMIM:616602
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Large fontanelles, Death in childhood, Flat acetabular roof, Death in infancy, Wormian bones, Dee... OMIM:613320
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Death in childhood, Lethargy, Erythema, Aggressive behavior OMIM:618321
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress ORPHA:86812
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Respiratory distress OMIM:267450
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Osteogenesis Imperfecta, Type X
Death in childhood, Respiratory distress, Pyloric stenosis, Micrognathia, Dentinogenesis imperfec... OMIM:613848
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Thick lower lip vermilion, Wide anterior fontanel, Dental crowding,... OMIM:305450
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Dislocated radial head, Dental crowding, Tooth agenesis, Wide mouth, Long philtrum,... OMIM:268310
Orofaciodigital Syndrome Type 4
Retrognathia, Abnormal oral frenulum morphology, Bifid uvula, Genu varum, Joint dislocation, Shor... ORPHA:2753
Typhoid
Lethargy ORPHA:99745
Frank-Ter Haar Syndrome
Wide anterior fontanel, Delayed cranial suture closure, Broad alveolar ridges, High palate, Gingi... OMIM:249420
Otosclerosis 4
Otosclerosis OMIM:611571
Osteogenesis Imperfecta, Type Xviii
Wormian bones, Micrognathia, Abnormality of the dentition OMIM:617952
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Limited elbow extension, Dislocated radial head, High palate, Velopharyngeal insufficiency, Micro... OMIM:620663
Isovaleric Acidemia
Lethargy OMIM:243500
Acute Interstitial Pneumonia
Hypoxemia, Tachypnea, Cyanosis, Dyspnea ORPHA:79126
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Velocardiofacial Syndrome
Retrognathia, Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Subm... OMIM:192430
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent hand flapping, Downturned corners of mouth, Attention deficit hyperactivity disorder, S... OMIM:619680
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Delayed cranial suture closure ORPHA:93324
Meckel Syndrome 14
Retrognathia, Micrognathia, Cyanosis, Microretrognathia OMIM:619879
Sepsis In Premature Infants
Purpura, Jaundice, Petechiae, Dyspnea, Nasal flaring, Enterocolitis, Cyanosis ORPHA:90051
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Lethargy OMIM:210200
Congenital Heart Block
Cyanosis ORPHA:60041
Cholera
Miscarriage, Tachypnea, Palmoplantar cutis laxa, Lethargy, Hyperventilation ORPHA:173
Tenorio Syndrome
Recurrent aphthous stomatitis, Delayed cranial suture closure, Mandibular prognathia, Wide mouth,... OMIM:616260
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Micrognathia, Bifid ... OMIM:300990
Posterior Urethral Valve
Retrognathia, Lethargy ORPHA:93110
Meier-Gorlin Syndrome 1
Respiratory distress, High palate, Narrow mouth, Microdontia, Death in infancy, Hypoplasia of the... OMIM:224690
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Native American Myopathy
High palate, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft soft palate, Downturned cor... ORPHA:168572
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Agitation, Lethargy ORPHA:263455
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Prolonged neonatal jaundice, Attention deficit hyperactivity disorder, Macroglossia, ... ORPHA:90674
Adnp Syndrome
Abnormal temper tantrums, Advanced eruption of teeth, Thick lower lip vermilion, Oral-pharyngeal ... ORPHA:404448
Lateral Meningocele Syndrome
Long philtrum, Dental crowding, High palate, Micrognathia, Cleft palate, Smooth philtrum, Wormian... OMIM:130720
Osteogenesis Imperfecta, Type Viii
Wormian bones, Wide anterior fontanel, Dentinogenesis imperfecta OMIM:610915
Neu-Laxova Syndrome
Retrognathia, Pterygium, Abnormality of the philtrum, Everted lower lip vermilion, Micrognathia, ... ORPHA:2671
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Respiratory distress OMIM:619272
Geroderma Osteodysplasticum
Periodontitis, Mandibular prognathia, Abnormality of the dentition, Hypoplasia of the maxilla, Wo... OMIM:231070
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia, Lethargy ORPHA:226316
Ebola Hemorrhagic Fever
Dyspnea, Lethargy, Dysphagia ORPHA:319218
Immunodeficiency 49
Wormian bones, Micrognathia, Natal tooth, Short philtrum OMIM:617237
Kniest Dysplasia
Cleft palate, Malar flattening, Respiratory distress OMIM:156550
Osteogenesis Imperfecta, Type Xiii
Thin vermilion border, Limitation of knee mobility, Dislocated radial head, Wormian bones, Dentin... OMIM:614856
Desmosterolosis
Retrognathia, Narrow mouth, Intestinal malrotation, Micrognathia, Bifid uvula, Cleft palate, Subm... ORPHA:35107
White-Sutton Syndrome
Thin vermilion border, Short philtrum, Mandibular prognathia, High palate, Micrognathia, Bifid uv... OMIM:616364
Spinal muscular atrophy, type I, with congenital bone fractures
High palate, Respiratory distress OMIM:271225
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submucous cl... OMIM:618106
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Bifid uvula, High palate OMIM:619314
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve... ORPHA:364577
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea ORPHA:444013
Cutis Laxa, Autosomal Recessive, Type Iiia
Large fontanelles, Narrow mouth, Congenital hip dislocation, Wide cranial sutures, Wormian bones,... OMIM:219150
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Long philtrum, Thick lower lip vermilion, Acrocyanosis OMIM:614407
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Exertional dyspnea, Dyspnea, Lethargy, Thin upper lip vermilion OMIM:620233
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Micrognathia, Trismus OMIM:616271
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Exertional dyspnea, Acrocyanosis ORPHA:2032
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Pierre-Robin sequence, Bifid uvula, Malar flattening, Cleft palate OMIM:183900
Histiocytoid Cardiomyopathy
Tachypnea, Cleft palate, Lethargy, Cyanosis ORPHA:137675
Cole-Carpenter Syndrome
Wormian bones, Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth ORPHA:2050
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Short lingual frenulum, Cleft palate, Cyanosis ORPHA:2326
Cirrhosis, Familial
Jaundice, Esophageal varix, Lethargy OMIM:215600
Pseudo-Torch Syndrome 2
Petechiae, Lethargy OMIM:617397
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Tachypnea, Respiratory distress ORPHA:264675
Myotonic Dystrophy 1
Obsessive-compulsive trait, Dysphagia, Respiratory distress OMIM:160900
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Respiratory distress ORPHA:922
Tularemia
Oral ulcer, Respiratory distress ORPHA:3392
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, High palate, Death in childhood, Respiratory distress OMIM:220110
Complete Atrioventricular Septal Defect
Tachypnea, Cyanosis, Lethargy, Intercostal retractions ORPHA:1329
Pfeiffer Syndrome Type 2
Respiratory distress, High palate, Anal atresia, Intestinal malrotation, Cleft palate, Malar flat... ORPHA:93259
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Lethargy, Tongue thrusting OMIM:608643
Osteoglophonic Dysplasia
Delayed eruption of teeth, Respiratory distress, Eruption failure, Mandibular prognathia, High pa... OMIM:166250
Premature Aging Syndrome, Penttinen Type
Retrognathia, Thin vermilion border, Delayed eruption of teeth, Narrow philtrum, Delayed cranial ... OMIM:601812
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Respiratory distress, Glossitis, Stomatitis, Smooth philtrum, Lethargy ORPHA:79282
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Macroglossia, Lethargy ORPHA:90673
Slc35A1-Cdg
Hypoxemia, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Abnormality of the dentition, Anal atresia, Bifid uvula, Cleft palate, Smoo... OMIM:300968
Avian Influenza
Respiratory distress, Miscarriage, Dyspnea, Hypoxemia, Tachypnea ORPHA:454836
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Melnick-Needles Syndrome
Tooth malposition, Delayed eruption of teeth, Delayed cranial suture closure, Micrognathia, Hip d... ORPHA:2484
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Addictive alcohol use, Abnormal pattern of respiration, Tachypnea, Episodic ... ORPHA:31826
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland m... OMIM:154500
Basal Ganglia Disease, Biotin-Thiamine Responsive
Lethargy, Dysphagia OMIM:607483
Chiari Malformation Type Ii
Cyanosis, Dysphagia OMIM:207950
Muscular Dystrophy, Congenital, With Or Without Seizures
Dysphagia, Respiratory distress OMIM:620166
Baraitser-Winter Cerebrofrontofacial Syndrome
Osteochondrosis, Retrognathia, Large fontanelles, Thin vermilion border, Delayed cranial suture c... ORPHA:2995
Thyroid Lymphoma
Dyspnea, Dysphagia, Respiratory distress ORPHA:97285
Holocarboxylase Synthetase Deficiency
Tachypnea, Lethargy, Hyperventilation OMIM:253270
Autosomal Dominant Progressive External Ophthalmoplegia
Bradykinesia, Exertional dyspnea, Depression, Bipolar affective disorder, Dysphagia, Lethargy ORPHA:254892
Wrinkly Skin Syndrome
Long philtrum, Delayed eruption of teeth, Wide anterior fontanel, Delayed cranial suture closure,... OMIM:278250
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Large fontanelles, Abnormal dental enamel morphology, Mandibular prognathia,... ORPHA:2658
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Self-mutilation, Prolonged neonatal jaundice, Acrocyanosis, Multiple gastric ... OMIM:225750
Osteogenesis Imperfecta, Type Xi
Wormian bones, Protrusio acetabuli, Dentinogenesis imperfecta OMIM:610968
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Acrocyanosis OMIM:602473
Cardiofaciocutaneous Syndrome 1
Dental malocclusion, Tongue thrusting, Open bite, High palate, Abnormality of the dentition, Micr... OMIM:115150
Diamond-Blackfan Anemia
Cleft soft palate, High palate, Adenocarcinoma of the colon, Micrognathia, Cleft lip, Lethargy ORPHA:124
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Biotinidase Deficiency
Respiratory distress, Apnea, Lethargy, Hyperventilation ORPHA:79241
Ulna Hypoplasia-Intellectual Disability Syndrome
Delayed cranial suture closure, Large fontanelles, Elbow dislocation ORPHA:2249
Cutis Laxa, Autosomal Recessive, Type Iib
Long philtrum, Large fontanelles, High palate, Congenital hip dislocation, Wormian bones OMIM:612940
Alg9-Cdg
Wide anterior fontanel, Delayed cranial suture closure, Prominent metopic ridge, Micrognathia, Bi... ORPHA:79328
Melnick-Needles Syndrome
Limited elbow extension, Stillbirth, Genu valgum, Delayed eruption of teeth, Obtuse angle of mand... OMIM:309350
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, High palate, Microdontia, Carious teeth, Micrognathia, Dentinogenesis imper... ORPHA:536467
Primary Dystonia, Dyt4 Type
Dysphagia, Open mouth, Respiratory distress ORPHA:98805
Osteogenesis Imperfecta, Type Xvi
Wormian bones, Microretrognathia, Tooth agenesis OMIM:616229
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Dyspnea ORPHA:439
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Cleft palate, Thick vermilion border ORPHA:250999
Resistance To Thyrotropin-Releasing Hormone Syndrome
Depression, Prolonged neonatal jaundice, Lethargy ORPHA:99832
Arterial Tortuosity Syndrome
Abnormal zygomatic bone morphology, Respiratory distress, Prematurely aged appearance, Dyspnea, E... ORPHA:3342
Pfeiffer Syndrome Type 3
Respiratory distress, High palate, Anal atresia, Intestinal malrotation, Cleft palate ORPHA:93260
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Respiratory distress OMIM:620306
Hallermann-Streiff Syndrome
Narrow palate, Supernumerary tooth, High, narrow palate, Thin vermilion border, Selective tooth a... OMIM:234100
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Respiratory distress, Exaggerated cupid's bow, Impulsivity, ... ORPHA:2131
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Dyspnea OMIM:610910
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Generalized abnormality of skin, Esophageal varix, Respiratory distress ORPHA:367
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Retrognathia, Thin vermilion border, Exertional dyspnea, Prematu... ORPHA:740
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Jaundice, Lethargy OMIM:615751
Methylmalonic Aciduria, Cblb Type
Lethargy, Respiratory distress OMIM:251110
Chitayat Syndrome
Thick vermilion border, Respiratory distress OMIM:617180
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Biotinidase Deficiency
Tachypnea, Apnea, Lethargy OMIM:253260
Lenz-Majewski Hyperostotic Dwarfism
Large fontanelles, Knee flexion contracture, Proximal symphalangism of hands, Mandibular prognath... OMIM:151050
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Purpura, Recurrent aphthous stomatitis, Urticaria, Acrocyanosis, Erythema ORPHA:343
Late-Onset Isolated Acth Deficiency
Celiac disease, Lethargy, Anorexia ORPHA:199299
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, High palate, Carious teeth, Micrognathia, Velopharyngea... OMIM:223370
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Aggressive behavior ORPHA:488627
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Thin vermilion border, Dental malocclusion, Dental crowding, Micrognathia... OMIM:614008
Pearson Marrow-Pancreas Syndrome
Anorexia, Steatorrhea, Death in childhood, Lethargy, Erythema, Villous atrophy OMIM:557000
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Retrognathia, Genu valgum, Thin lower lip vermilion, Elbow flexion contracture, Microdontia, Hip ... OMIM:619194
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Thick vermilion border, Death in childhood, Respiratory distress OMIM:617303
Methylmalonic Aciduria, Cbla Type
Lethargy, Respiratory distress OMIM:251100
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Cyanosis, Lethargy, Death in infancy OMIM:252010
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Lethargy, Perioral erythema OMIM:201100
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Hypoventilation, Depression, Everted lower lip vermilion, Compulsive behaviors, Polyp... ORPHA:293987
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Impulsivity, Wide mouth, Dysphagia, Bruxism, Esophageal varix, Urticaria, Deep p... OMIM:619503
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dental crowding, Delayed cranial suture closure, Elbow flexion contracture, High palate, Prematur... OMIM:248370
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Dyspnea, Hypoxemia, Tachypnea, Cyanosis OMIM:610913
Symptomatic Form Of Hfe-Related Hemochromatosis
Apathy, Lethargy ORPHA:465508
Hennekam-Beemer Syndrome
Thick lower lip vermilion, Delayed cranial suture closure, High palate, Camptodactyly of finger, ... ORPHA:2135
Silver-Russell Syndrome
Thin vermilion border, Dental crowding, Delayed cranial suture closure, Micrognathia, Downturned ... ORPHA:813
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Jaundice, Lethargy, Respiratory distress OMIM:617156
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Delayed cranial suture closure, Oligodontia, High palate, Dislocation of the femoral head, Microg... OMIM:210730
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Maple Syrup Urine Disease, Type Ia
Lethargy OMIM:248600
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Hypoxemia, Tachypnea, Oxygen desaturation on exertion OMIM:610978
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c... ORPHA:2250
Mullegama-Klein-Martinez Syndrome
Short philtrum, Attention deficit hyperactivity disorder, Submucous cleft of soft and hard palate... OMIM:301022
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress OMIM:245590
Isolated Arrhinia
Tessier cleft, Hypoplasia of the nasal bone, Respiratory distress ORPHA:1134
Meconium Aspiration Syndrome
Hypoxemia, Respiratory distress ORPHA:70588
Bruck Syndrome 2
Wormian bones, Elbow flexion contracture, Knee flexion contracture, Pterygium OMIM:609220
Schwartz-Jampel Syndrome
Supernumerary tooth, Long philtrum, Genu valgum, High palate, Wrist flexion contracture, Everted ... ORPHA:800
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Supernumerary tooth, Retrognathia, Widely spaced teeth, Cleft soft palate, Stereotypical hand wri... ORPHA:268261
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Respiratory distress, Death in infancy, Apnea, Cyanosis, Hypopnea OMIM:618426
Chromosome 1P36 Deletion Syndrome, Distal
Orofacial cleft, Wide anterior fontanel, High palate, Polyphagia, Oppositional defiant disorder, ... OMIM:607872
Encephalitis Lethargica
Lethargy, Hyperventilation ORPHA:83600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory distress OMIM:617895
Osteoporosis-Pseudoglioma Syndrome
Wormian bones ORPHA:2788
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi... ORPHA:348
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Purpura, Sinusitis, Urticaria, Cutis marmorata, Dysphagia, Acrocyanosis ORPHA:183
Arboleda-Tham Syndrome
Short philtrum, Respiratory distress, Peg-shaped maxillary lateral incisors, Mandibular prognathi... OMIM:616268
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress ORPHA:411703
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis, Exertional dyspnea, Dyspnea ORPHA:199241
Zttk Syndrome
Thin vermilion border, Intestinal atresia, Short philtrum, High palate, Abnormality of the dentit... OMIM:617140
Stt3B-Cdg
Respiratory distress ORPHA:370924
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Dyspnea ORPHA:747
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Flat acetabular roof, Bifid uvula, Wormian bones, Anteriorly placed anus OMIM:617159
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Large fontanelles, Arthritis, Arthropathy, High palate, Wormian bones OMIM:259100
De Barsy Syndrome
Delayed eruption of teeth, High palate, Narrow mouth, Congenital hip dislocation, Wormian bones, ... ORPHA:2962
Mercury Poisoning
Anorexia, Dyspnea, Respiratory distress ORPHA:330021
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Macroglossia, Cyanosis OMIM:261740
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Lethargy ORPHA:395
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth, Denta... OMIM:614188
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Cardiofaciocutaneous Syndrome
Excessive wrinkled skin, High palate, Hypoplasia of the zygomatic bone, Long philtrum, Submucous ... ORPHA:1340
Viss Syndrome
Retrognathia, High, narrow palate, Cleft soft palate, Chronic gastritis, Prominent superficial bl... OMIM:619472
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Death in childhood, Short philtrum, Gingival overgrowth, Glo... OMIM:602535
Marden-Walker Syndrome
Retrognathia, Narrow mouth, Pyloric stenosis, Micrognathia, Bifid uvula, Cleft palate, Attention ... ORPHA:2461
D-Bifunctional Protein Deficiency
Retrognathia, Large fontanelles, Delayed cranial suture closure, High palate, Micrognathia, Long ... OMIM:261515
Holoprosencephaly 13, X-Linked
Solitary median maxillary central incisor, Median cleft palate, Micrognathia, Cleft palate, Submu... OMIM:301043
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Acrocyanosis ORPHA:896
Menkes Disease
Wormian bones, Death in childhood OMIM:309400
Ciliary Dyskinesia, Primary, 2
Sinusitis, Respiratory distress OMIM:606763
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Trisomy 10P
Retrognathia, Orofacial cleft, Thin vermilion border, Rectovaginal fistula, High palate, Microgna... ORPHA:171929
Hajdu-Cheney Syndrome
Thin vermilion border, Long philtrum, Periodontitis, Open bite, Narrow mouth, Abnormality of the ... ORPHA:955
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Tolchin-Le Caignec Syndrome
Narrow mouth, High palate, Micrognathia, Attention deficit hyperactivity disorder, Submucous clef... OMIM:618971
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Compulsive behaviors, Abnormal drinking behavior, Hypodontia... ORPHA:209905
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Respiratory distress OMIM:151210
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Tooth malposition OMIM:268320
Limb-Mammary Syndrome
Cleft hard palate, Bifid uvula, Submucous cleft soft palate, Cleft palate, Malar flattening, Hypo... ORPHA:69085
Doors Syndrome
Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Respiratory distress, Broad alveol... ORPHA:79500
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, High palate, Wormian bones, ... OMIM:620662
Medulloblastoma
Lethargy, Adenomatous colonic polyposis ORPHA:616
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the wrists, Delayed eruption of teeth, Enlargement of the ankles, Enamel hypoplasi... ORPHA:289157
Hajdu-Cheney Syndrome
Long philtrum, Genu valgum, Dislocated radial head, Premature loss of teeth, High palate, Narrow ... OMIM:102500
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Dyspnea, Telangiectasia ORPHA:2038
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Delayed cranial suture closure, Cleft of chin, Hypopl... OMIM:101400
Ogden Syndrome
Narrow palate, Thin vermilion border, Everted upper lip vermilion, Short philtrum, Wide anterior ... OMIM:300855
Congenital Tracheomalacia
Esophageal atresia, Intercostal retractions, Dyspnea, Tracheoesophageal fistula, Apnea, Cyanosis ORPHA:95430
Renal Hypoplasia, Bilateral
Lethargy ORPHA:97362
Mitochondrial Trifunctional Protein Deficiency
Lethargy ORPHA:746
Coffin-Lowry Syndrome
Narrow palate, Rectal prolapse, Thick lower lip vermilion, Widely spaced teeth, Mandibular progna... OMIM:303600
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Respiratory distress, Abnormal dental enamel morphology, Abnormal rectum morphology... ORPHA:2556
Oculopharyngodistal Myopathy 1
Hypercapnia, High palate, Dysphagia, Respiratory distress OMIM:164310
Hardikar Syndrome
Gastric varix, Jaundice, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilateral ... OMIM:301068
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory distress, Death in adolescence, Death in infancy, Prolonged neonatal jaundice OMIM:615512
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Toxic Epidermal Necrolysis
Polydipsia, Respiratory distress, Intestinal perforation, Tracheoesophageal fistula, Dysphagia, E... ORPHA:537
Bruck Syndrome
Wormian bones, Pterygium ORPHA:2771
Aymé-Gripp Syndrome
Large fontanelles, Delayed cranial suture closure, Oligodontia, Narrow mouth, Prominent metopic r... ORPHA:1272
Atrial Septal Defect, Ostium Primum Type
Tachypnea, Cyanosis, Exertional dyspnea, Dyspnea ORPHA:99106
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones OMIM:619638
Cardiogenic Shock
Hypoxemia, Cyanosis, Dyspnea, Orthopnea ORPHA:97292
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Depression, Submucous cleft hard palate, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:618891
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Ayme-Gripp Syndrome
Delayed cranial suture closure, Mandibular prognathia, Narrow mouth, Abnormality of the dentition... OMIM:601088
Primary Hyperoxaluria
Rootless teeth, Abnormality of the dentition, Cutis marmorata, Acrocyanosis, Abnormal dental pulp... ORPHA:416
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Meconium ileus, Cyanosis OMIM:617239
Myasthenia Gravis
Dyspnea, Dysphagia, Acrocyanosis ORPHA:589
Mandibuloacral Dysplasia Progeroid Syndrome
Death in childhood, Genu valgum, Short philtrum, Hypodontia, Delayed cranial suture closure, Intr... OMIM:619127
Congenital Tracheal Stenosis
Respiratory distress, Meckel diverticulum, Dyspnea, Anal atresia, Tracheoesophageal fistula, Duod... ORPHA:141127
Stüve-Wiedemann Syndrome
Respiratory distress, Smooth tongue, Abnormality of the dentition, Apnea, Trismus ORPHA:3206
Microlissencephaly-Micromelia Syndrome
Long philtrum, Respiratory distress ORPHA:50810
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy, Smooth philtrum OMIM:277400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Long philtrum, Short philtrum, Wide anterior fontanel, Mandibular prognathia, Misca... ORPHA:96334
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, High palate OMIM:300232
Curry-Jones Syndrome
Anal stenosis, Unicoronal synostosis, Intestinal pseudo-obstruction, Bicoronal synostosis, Intest... OMIM:601707
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis ORPHA:555874
Pulmonary Alveolar Microlithiasis
Exertional dyspnea, Dyspnea, Hypoxemia, Tachypnea, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Large fontanelles, Joint dislocation, Delayed cranial suture closure, High palate, Narrow mouth, ... OMIM:601776
Cocaine Intoxication
Hyperventilation, Agitation, Respiratory distress, Intestinal perforation, Tachypnea, Mania, Colitis ORPHA:90068
Severe Generalized Junctional Epidermolysis Bullosa
Erosion of oral mucosa, Respiratory distress, Dyspnea, Fragile skin, Enamel hypoplasia, Abnormal ... ORPHA:79404
Japanese Encephalitis
Anorexia, Respiratory distress, Irregular respiration, Abnormal pattern of respiration ORPHA:79139
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Mandibuloacral Dysplasia With Type A Lipodystrophy
Wormian bones, Large fontanelles, High palate, Abnormality of the dentition ORPHA:90153
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Retrognathia, Respiratory distress, Narrow mouth, Pyloric stenosis, Micrognathia, Cleft palate ORPHA:83617
8Q24.3 Microdeletion Syndrome
Mesiodens, Respiratory distress, Hyperactivity, Tics, Dysphagia, Smooth philtrum, Microretrognath... ORPHA:508488
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Mgat2-Cdg
Dental crowding, Stereotypical hand wringing, Open mouth, Respiratory distress ORPHA:79329
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Bacterial Toxic-Shock Syndrome
Sinusitis, Tachypnea, Ecchymosis, Respiratory distress ORPHA:36234
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Widely spaced teeth, Short philtrum, Dental crowding, Narrow mouth, Impulsiv... OMIM:300967
Osteogenesis Imperfecta, Type Ii
Wormian bones, Large fontanelles OMIM:166210
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Prolonged neonatal jaundice, Macroglossia, Lethargy ORPHA:226307
Achondroplasia
Death in infancy, Malar flattening, Respiratory distress OMIM:100800
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Lethargy, Restlessness ORPHA:68
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Supernumerary tooth, Aplasia of the epiglottis, Respiratory distress, Hypodontia, Accessory oral ... OMIM:617088
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Bruising susceptibility, Cleft soft palate OMIM:614557
Nasolacrimal Duct Cyst
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions ORPHA:141083
Lujo Hemorrhagic Fever
Purpura, Ecchymosis, Dysphagia, Respiratory distress ORPHA:319213
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Otopalatodigital Syndrome, Type Ii
Stillbirth, Wide anterior fontanel, Narrow mouth, Congenital hip dislocation, Micrognathia, Cleft... OMIM:304120
Fucosidosis
Abnormality of the dentition, Vascular skin abnormality, Acrocyanosis ORPHA:349
Hereditary Fructose Intolerance
Jaundice, Lethargy ORPHA:469
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Holoprosencephaly 2
Solitary median maxillary central incisor, Bilateral cleft palate, Median cleft palate, Bifid uvu... OMIM:157170
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Exertional dyspnea, Gastrointestinal arteriovenou... OMIM:187300
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Respiratory distress, Abnormal intestine morphology, Urticaria, Ileus, Colitis ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Dyspnea, Angioedema, Urticaria, Vasculitis in the skin, Cutis marmorata, Dy... ORPHA:3260
Cutis Laxa, Autosomal Dominant 3
Wormian bones, Delayed cranial suture closure, Hip dislocation OMIM:616603
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Delayed cranial suture closure, Macroglossia OMIM:613038
Infantile Krabbe Disease
Respiratory distress ORPHA:206436
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Retrognathia, Dyspnea, Micrognathia, Bifid uvula, Cleft palate, Thick vermilion border, Malar fla... ORPHA:2636
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Pterygium, Arthritis, Arthropathy, Sclerotic cranial sutures ORPHA:371428
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Respiratory distress, Anal atresia, Tracheoesophageal fistula, Intestinal ... ORPHA:210122
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea, Lethargy ORPHA:415
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory distress, Depression, Hyperactivity, Impulsivity, Re... ORPHA:805
Isolated Complex I Deficiency
Lethargy ORPHA:2609
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Retrognathia, Neoplasm of the tongue, Camptodactyly of finger, Micrognathia, Bifid uvula, Submuco... ORPHA:3047
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Orofacial cleft, Apnea, Aggressive behavior ORPHA:17
Familial Hypoaldosteronism
Lethargy ORPHA:427
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Respiratory distress, Impaired oral bolus formation, Impaired orophary... OMIM:615273
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Hypoplasia of the maxilla, Downturned corners of mouth, Bi... ORPHA:500150
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Stomatitis, Respiratory distress OMIM:612852
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Exertional dyspnea, Dyspnea ORPHA:99103
Congenital Enterovirus Infection
Respiratory distress ORPHA:292
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Jaundice, Respiratory distress OMIM:274150
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Respiratory distress, Orthopnea, Dysphagia, Macroglossia ORPHA:365
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Exertional dyspnea, Dyspnea ORPHA:99104
Diamond-Blackfan Anemia 1
Retrognathia, Delayed cranial suture closure, High palate, Cleft upper lip, Micrognathia, Cleft p... OMIM:105650
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Thick vermilion border, Respiratory distress ORPHA:505248
Marburg Hemorrhagic Fever
Anorexia, Jaundice, Petechiae, Bruising susceptibility, Lethargy, Aggressive behavior ORPHA:99826
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Posteriorly placed anus, Anal atresia, Cyanosis, Duodenal atresia OMIM:306955
Unilateral Polymicrogyria
Apnea, Cyanosis, Pseudobulbar paralysis ORPHA:268943
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Gastrointestinal arte... OMIM:600376
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Respiratory distress OMIM:115197
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Downturned corners of mouth, Wide mouth, Dysphagia, Attention deficit hyperactivit... ORPHA:466943
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long philtrum, Hip subluxation, Cervical C2/C3 vertebral fusion, High palate, Glossoptosis, Micro... ORPHA:444077
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Delayed cranial suture closure, Microdontia, Micrognathia, Thick vermilion border, Smooth philtru... OMIM:620005
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Dyspnea, Conjunctival tel... OMIM:610655
Double Outlet Left Ventricle
Orofacial cleft, Tachypnea, Cyanosis ORPHA:3427
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Cleft soft palate, Intestinal malrotation, Downturned corners of mouth, Smooth philtrum OMIM:619321
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Multiple Endocrine Neoplasia Type 1
Peptic ulcer, Duodenal ulcer, Anorexia, Gingival fibromatosis, Depression, Lethargy ORPHA:652
Farber Disease
Respiratory distress ORPHA:333
Heterotaxy, Visceral, 7, Autosomal
Intestinal malrotation, Cyanosis OMIM:616749
Lysinuric Protein Intolerance
Steatorrhea, Lethargy, Oral aversion ORPHA:470
Coffin-Siris Syndrome 12
Hip subluxation, Ridged cranial sutures, Delayed cranial suture closure, High palate, Velopharyng... OMIM:619325
Kufor-Rakeb Syndrome
Bradykinesia, Apathy, Lethargy, Dysphagia ORPHA:306674
Q Fever
Anorexia, Purpura, Respiratory distress ORPHA:781
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Respiratory distress ORPHA:308552
Exercise-Induced Malignant Hyperthermia
Tachypnea, Flushing, Lethargy, Hypocapnia ORPHA:466650
Eisenmenger Syndrome
Exertional dyspnea, Respiratory distress, Hypoxemia, Cyanosis, Lethargy ORPHA:97214
Classical Ehlers-Danlos Syndrome
Rectal prolapse, Abnormality of the temporomandibular joint, Prematurely aged appearance, Fragile... ORPHA:287
Microphthalmia, Syndromic 2
Supernumerary tooth, Radiculomegaly, Delayed eruption of teeth, Oligodontia, Fused teeth, Persist... OMIM:300166
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Wrinkly Skin Syndrome
Long philtrum, Delayed eruption of teeth, High palate, Congenital hip dislocation, Carious teeth,... ORPHA:2834
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Lethargy OMIM:218700
Citrullinemia, Classic
Lethargy OMIM:215700
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress ORPHA:2519
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Generalized abnormality of skin, Anorexia, Oral-pharyngeal dysphagia, Respiratory distress, Depre... ORPHA:95455
Menkes Disease
Abnormal palate morphology, Tarsal synostosis, Micrognathia, Wormian bones, Chondrocalcinosis ORPHA:565
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy OMIM:311250
Neuroocular Syndrome
Retrognathia, Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Downturned cor... OMIM:619539
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Cleft hard palate, Thick lower lip vermilion, Short philtrum, Delayed erup... ORPHA:261537
Restrictive Dermopathy
Temporomandibular joint ankylosis, Narrow mouth, Microcolon, Camptodactyly of finger, Micrognathi... ORPHA:1662
Ulbright-Hodes Syndrome
Thin vermilion border, Respiratory distress, Long upper lip, Narrow mouth, High palate, Micrognathia ORPHA:3404
Shwachman-Diamond Syndrome 1
Steatorrhea, Respiratory distress OMIM:260400
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Hypocapnia ORPHA:980
Mowat-Wilson Syndrome
Aganglionic megacolon, Cleft hard palate, Widely spaced teeth, Thick lower lip vermilion, Delayed... ORPHA:2152
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Prolonged neonatal jaundice, Jaundice, Respiratory distress OMIM:256810
Wiedemann-Rautenstrauch Syndrome
Retrognathia, Premature skin wrinkling, Short philtrum, Premature loss of teeth, Narrow mouth, Ab... ORPHA:3455
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Midline facial cleft, Cleft upper lip, Cleft palate, Submucous cleft soft pa... OMIM:603671
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Joint subluxation, Wormian bones, Hip dislocation OMIM:617821
Argininosuccinic Aciduria
Lethargy OMIM:207900
Aortic Arch Interruption
Tachypnea, Cyanosis, Exertional dyspnea, Respiratory distress ORPHA:2299
Osteogenesis Imperfecta, Type Xxi
Wormian bones OMIM:619131
Yunis-Varon Syndrome
Thin vermilion border, High, narrow palate, Broad secondary alveolar ridge, Short philtrum, Gingi... ORPHA:3472
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Apnea, Dysphagia, Episodic respiratory distress, Hyperventilation ORPHA:255210
Glycerol Kinase Deficiency
Downturned corners of mouth, Lethargy OMIM:307030
Osteogenesis Imperfecta
Intestinal obstruction, Large fontanelles, Genu valgum, Delayed eruption of teeth, Abnormality of... ORPHA:666
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Criss-Cross Heart
Cyanosis ORPHA:1461
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Dyspnea, Lethargy, Dysphagia ORPHA:447
Hemorrhagic Fever-Renal Syndrome
Agitation, Respiratory distress, Petechiae, Dyspnea, Ecchymosis ORPHA:340
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Delayed cranial suture closure, Persistence of primary teeth ORPHA:93325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Cleft hard palate, Thick lower lip vermilion, Short philtrum, Delayed erup... ORPHA:261552
Poems Syndrome
Plethora, Acrocyanosis ORPHA:2905
Neuroblastoma
Respiratory distress ORPHA:635
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal periodontium morphology, Tooth malposition, Respiratory distress, Gingival overgrowth, H... ORPHA:480880
Hunter-Macdonald Syndrome
Large fontanelles, Cubitus valgus, Short philtrum, Delayed cranial suture closure, Thin upper lip... OMIM:611962
Plague
Anorexia, Respiratory distress, Depression, Glossitis, Inflammation of the large intestine, Enter... ORPHA:707
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Delayed cranial suture closure, High palate, Smooth philtrum, Anteriorly placed anus OMIM:618653
Listeriosis
Miscarriage, Jaundice, Respiratory distress ORPHA:533
Pallister-Killian Syndrome
Everted lower lip vermilion, Intestinal malrotation, Bifid uvula, Wide mouth, Long philtrum, Alve... OMIM:601803
Hypermobile Ehlers-Danlos Syndrome
Rectal prolapse, High, narrow palate, Depression, Dental crowding, Gingival overgrowth, Gingiviti... ORPHA:285
Occipital Horn Syndrome
Large fontanelles, High, narrow palate, Abnormality of the wrist, Genu valgum, Delayed cranial su... ORPHA:198
Hydranencephaly
Lethargy ORPHA:2177
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Delayed cranial suture closure, Large fontanelles ORPHA:2211
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Fructose Intolerance, Hereditary
Jaundice, Lethargy OMIM:229600
Kasabach-Merritt Phenomenon
Petechiae, Purpura, Hypopnea, Respiratory distress ORPHA:2330
Dermatomyositis
Facial erythema, V-sign, Cutaneous photosensitivity, Gastrointestinal stroma tumor, Shawl sign, T... ORPHA:221
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Exertional dyspnea ORPHA:99050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Cryptococcosis
Dyspnea, Respiratory distress ORPHA:1546
Colchicine Poisoning
Respiratory distress ORPHA:31824
Gitelman Syndrome
Polydipsia, Salt craving, Respiratory distress ORPHA:358
Schinzel-Giedion Midface Retraction Syndrome
Wormian bones, Widely patent fontanelles and sutures, Macroglossia, Metopic suture patent to nasa... OMIM:269150
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Postinfectious Vasculitis
Anorexia, Palpable purpura, Vasculitis in the skin, Cutis marmorata, Acrocyanosis ORPHA:48435
Mowat-Wilson Syndrome
Aganglionic megacolon, Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Pyloric... OMIM:235730
Holt-Oram Syndrome
Limited elbow extension, Abnormal carpal morphology, Cervical C2/C3 vertebral fusion, Cleft soft ... OMIM:142900
Nocardiosis
Anorexia, Dyspnea, Respiratory distress ORPHA:31204
Glycine Encephalopathy
Lethargy ORPHA:407
Coccidioidomycosis
Respiratory distress ORPHA:228123
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Long philtrum, Retrognathia, Thin vermilion border, Respiratory distress ORPHA:99646
Cebalid Syndrome
High palate, Polyphagia OMIM:618774
Scimitar Syndrome
Respiratory distress ORPHA:185
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis ORPHA:51
Pineoblastoma
Lethargy ORPHA:251909
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Narrow mouth, Erythema, Fragile skin OMIM:614748
Goodpasture Syndrome
Tachypnea, Cyanosis, Exertional dyspnea OMIM:233450
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Autosomal Dominant Cutis Laxa
Genu recurvatum, Delayed cranial suture closure, Small bowel diverticula, Wormian bones, Hip disl... ORPHA:90348
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
1P36 Deletion Syndrome
Delayed cranial suture closure, Abnormal intestine morphology, Narrow mouth, Pyloric stenosis, Ca... ORPHA:1606
Leptospirosis
Anorexia, Jaundice, Respiratory distress ORPHA:509
Yunis-Varon Syndrome
Thin vermilion border, Large fontanelles, Short philtrum, Broad alveolar ridges, High palate, Fla... OMIM:216340
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Retrognathia, Respiratory distress, Mandibular pro... ORPHA:79318
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Exertional dyspnea, Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy ORPHA:99125
Generalized Arterial Calcification Of Infancy
Cyanosis, Respiratory distress ORPHA:51608
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Respiratory distress ORPHA:2255
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Alström Syndrome
Respiratory distress, Abnormality of dental color, Esophageal varix, Gingivitis, Polyphagia, Toot... ORPHA:64
Meningioma, Familial, Susceptibility To
OMIM:607174

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mn1.

No publications found that use IMPC mice or data for Mn1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Mn1tm445122(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter