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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Polyphagia, High palate 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
Microglossia, Respiratory distress, Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Cle... ORPHA:141152
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Lethargy, Death in childhood, Wide anterior fontanel OMIM:619064
Perching Syndrome
Respiratory distress, High palate, Dysphagia, Cyanosis OMIM:617055
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Respiratory distress, Gingival overgrowth, Median cleft palate, Micrognathia, Mandi... ORPHA:1832
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr... OMIM:614669
Gaba-Transaminase Deficiency
Lethargy, Retrognathia, Death in childhood OMIM:613163
Orofacial Cleft 13
Micrognathia, Cleft soft palate, Retrognathia, Oligodontia OMIM:613857
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma... ORPHA:2521
Cleft Velum
Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Glycine Encephalopathy 1
Death in infancy, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Craniosynostosis 2
Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Metopic synostosis... OMIM:604757
Tetrasomy 5P
Long philtrum, Respiratory distress, Micrognathia, Cyanosis, High palate, Wide anterior fontanel ORPHA:3309
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Attention deficit hyperactivity... OMIM:619736
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth OMIM:300934
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Neuralgic Amyotrophy
Bifid uvula, Acrocyanosis, Narrow mouth, Cleft palate ORPHA:2901
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Micrognathia, Death in infancy, Thin upper lip vermilion, High palate OMIM:615042
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Downturned corners of mouth, Long philtrum, Micrognathia, Delayed patellar ossification, Abnormal... ORPHA:163649
Pontocerebellar Hypoplasia, Type 6
Lethargy, Narrow palate, Apnea, Death in childhood OMIM:611523
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Chromosome 16Q22 Deletion Syndrome
Micrognathia, Wormian bones, High palate, Wide anterior fontanel, Prominent metopic ridge OMIM:614541
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, Wormian bones, ... ORPHA:2863
Craniometadiaphyseal Dysplasia
Carious teeth, Dental crowding, Natal tooth, Genu valgum, Microdontia, Wormian bones, Cubitus val... OMIM:269300
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Central apnea, Cyanosis ORPHA:71277
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Anorexia ORPHA:79283
Congenital Myopathy 10A, Severe Variant
Respiratory distress, High palate, Dysphagia, Cleft palate OMIM:614399
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia OMIM:300580
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy, Death in infancy OMIM:616341
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hao-Fountain Syndrome
Large fontanelles, Delayed cranial suture closure OMIM:616863
Brachydactyly, Type B1
Joint contracture of the hand, Delayed cranial suture closure, Vertebral fusion, Delayed eruption... OMIM:113000
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia ORPHA:1423
Oromandibular Dystonia
Depression, Abnormality of the temporomandibular joint, Abnormal mandible morphology, Respiratory... ORPHA:93958
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Micrognathia, Knee flexion contracture, Cleft hard palate, Dislocated radial head, F... ORPHA:166016
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Anteriorly placed anus, Respiratory distress, Micrognathia, Wide ant... OMIM:217980
Hypoglossia With Situs Inversus
Microglossia, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, High palate OMIM:612776
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Death in childhood OMIM:618224
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Lethargy ORPHA:26792
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel OMIM:601356
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse OMIM:619793
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Short philtrum, Mandibular prognathia, Cleft palate, Prominent metopic ridge ORPHA:85317
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Joint dislocation, Abnormal mandible morphology, Camptodactyly of finger, Su... ORPHA:3201
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Lethargy, Dysphagia OMIM:613561
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Respiratory distress, Death i... ORPHA:166272
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea, Cyanotic episode OMIM:610992
Orofaciodigital Syndrome Xix
Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Retrognathia, Cleft ... OMIM:620107
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Primary Pulmonary Hypoplasia
Micrognathia, Apnea, Cyanosis, Tachypnea, Hypoxemia, Cleft palate ORPHA:2257
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Micrognathia, Wormian bones, Obtuse angle of mandible, High palate, Wide anterior fontanel ORPHA:85184
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Depression, Neuromuscular dysphagia, Respiratory distress, Apathy, Bradykinesia ORPHA:240085
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Lethargy OMIM:606777
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Lethargy, Death in childhood, Bradykinesia 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
Lethargy, Apnea, Death in childhood OMIM:618225
Alfadhel Syndrome
Retrognathia, Smooth philtrum, Aggressive behavior, Thin vermilion border, Short philtrum, Nasal ... OMIM:620655
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Large posterior fontanelle, Delayed cranial suture closure, Abnormal de... ORPHA:85199
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... 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
Smooth philtrum, Wormian bones, Thin vermilion border, Craniosynostosis, High palate, Wide anteri... OMIM:601853
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Neonatal death, Cleft palate OMIM:615524
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Wide anterior fontanel, Neonatal death OMIM:231680
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia OMIM:619751
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ... OMIM:612292
Pyruvate Dehydrogenase Deficiency
Long philtrum, Lethargy, Tachypnea, Dyspnea, High palate ORPHA:765
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, A... ORPHA:457279
Grant Syndrome
Joint dislocation, Open bite, Micrognathia, Large fontanelles, Abnormal palate morphology, Wormia... ORPHA:2097
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Retrognathia, Abnormal lip morphology, Respiratory distress, Abnormal upper ... ORPHA:2707
Parietal Foramina 1
Wormian bones, Cleft palate, Cleft upper lip OMIM:168500
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Mucopolysaccharidosis, Type Ix
Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Periarticular soft-tissue mass, Submucou... OMIM:601492
Coffin-Siris Syndrome 6
High, narrow palate, Retrognathia, Micrognathia, Wormian bones, Deep philtrum, Short philtrum, Cl... OMIM:617808
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Lethargy, Irregular respiration, High palate 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
Respiratory distress, Death in infancy OMIM:254120
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Macroglossia, Wormian bones, Delayed eruption of teeth OMIM:614450
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Congenital Myasthenic Syndrome
Microretrognathia, Narrow jaw, Cyanosis, Episodic respiratory distress, Choking episodes, Apneic ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Narrow jaw, Cyanosis, Episodic respiratory distress, Choking episodes, Apneic ... ORPHA:98914
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:605809
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia, Lethargy ORPHA:95717
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Short philtrum, Micrognathia, Thin vermilion border ORPHA:261304
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Apnea, Dysphagia OMIM:618226
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Respiratory distress, Micrognathia, Telangiectasia, Smooth philtrum OMIM:608799
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Neonatal death, Palmoplantar cutis laxa, Central apnea, Wide anterior fontanel OMIM:616482
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Respiratory distress, Death in infancy, Neonatal death, High palate OMIM:300219
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, Death in infancy, Death in adolescence, Lethargy, Jaundice, High palate, Cleft pala... OMIM:614866
Agnathia-Otocephaly Complex
Microglossia, Respiratory distress, Aglossia, Micrognathia, Narrow mouth, Mandibular aplasia, Cle... OMIM:202650
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, ... ORPHA:178303
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Neonatal death OMIM:610498
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Respiratory distress, Micrognathia, High palate, Dysph... OMIM:157900
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Tachypnea, Micrognathia OMIM:614857
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Lethargy, Long philtrum OMIM:312170
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Death in infancy, Anorexia OMIM:619386
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia, Wormian bones, Wide anterior fontanel, Protrusio acetabuli OMIM:259420
Postsynaptic Congenital Myasthenic Syndromes
High palate, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis, Wormian bones OMIM:166220
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Bifid uvula, Micrognathia, Cleft palate OMIM:606164
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis ORPHA:163703
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Cleft soft pal... OMIM:616331
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Death in childhood OMIM:246900
High Altitude Pulmonary Edema
Cyanosis, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemia ORPHA:330012
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, Wormian bones, ... OMIM:613849
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Micrognathia, Patellar aplasia, Subm... OMIM:613805
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Micrognathia ORPHA:1143
Cree Impaired Intellectual Development Syndrome
Micrognathia, Cleft soft palate, Large fontanelles OMIM:606851
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Apnea OMIM:618228
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Macroglossia, High palate ORPHA:254864
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Downturned corners of mouth, Retrogna... ORPHA:2409
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Lethargy, Anorexia ORPHA:79312
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth, Micrognathia... OMIM:618529
Frontofacionasal Dysplasia
Bifid uvula, Hypoplasia of the frontal bone, Cleft upper lip, Malar flattening, Orofacial cleft OMIM:229400
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Retrognathia, Respiratory distress, Apnea, Narrow mouth, Open mouth,... OMIM:608013
Central Diabetes Insipidus
Lethargy, Depression, Polydipsia, Anorexia ORPHA:178029
Evans Syndrome
Bruising susceptibility, Petechiae, Lethargy, Dyspnea, Jaundice ORPHA:1959
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Microretrognathia, Dysphagia ORPHA:89844
Ogden Syndrome
High, narrow palate, Lethargy, Microretrognathia, Everted upper lip vermilion ORPHA:276432
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Unilateral cleft lip, Delayed cranial suture closure, Abnormality of the wrist, Large fontanelles... ORPHA:2511
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Multiple suture craniosynostosis, Broad secondary alveolar ridge, Small anterior fontanelle, Meto... ORPHA:3369
Spondylometaphyseal Dysplasia, Schmidt Type
Irregular acetabular roof, Abnormality of the wrist, Genu valgum, Cleft soft palate, Micrognathia... ORPHA:93316
Amish Lethal Microcephaly
Micrognathia, Cleft soft palate, Death in infancy ORPHA:99742
Six2-Related Frontonasal Dysplasia
Prominent palatine ridges, Premature posterior fontanelle closure, Wide anterior fontanel, Metopi... ORPHA:488437
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Motor stereotypy, Agitation ORPHA:927
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Brachycephaly, Trichomegaly, And Developmental Delay
Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b... OMIM:617412
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, High palate, Micrognathia, Cyanosis ORPHA:3304
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Agitation ORPHA:276608
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Lip discoloration ORPHA:621
Cyclic Vomiting Syndrome
Lethargy, Attention deficit hyperactivity disorder, Anorexia OMIM:500007
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Jaundice, Lethargy OMIM:250940
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Coronal craniosynostosis, Microretrognath... OMIM:616294
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Recurrent hand flapping, Protruding tongue, Cyanosis, Aggressive behavior, Attention defic... OMIM:619580
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Micrognathia, Cyanotic episode ORPHA:284417
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Lethargy, Tachypnea, Death in infancy OMIM:614299
Isolated Exencephaly
Hypoplasia of the frontal bone, Abnormal facial skeleton morphology ORPHA:563612
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276556
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Micrognathia, Accessory oral frenulum, Agenesis of central incisor, Me... OMIM:252100
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Delayed cranial suture... ORPHA:2780
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Lethargy OMIM:610006
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Anterior radial head dislocation, Wormian bones, Limited pronation/sup... OMIM:610967
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Addictive alcohol use, Tachypnea, Lethargy, Dyspnea, Hypoxemia ORPHA:36238
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Respiratory distress, Death ... OMIM:184260
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Anteriorly placed an... OMIM:601390
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micrognathia, Submucous cleft ha... ORPHA:2189
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Wormian bones ORPHA:166277
Diaphanospondylodysostosis
Respiratory distress, Cleft palate ORPHA:66637
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
High, narrow palate, Long philtrum, Metopic synostosis, Everted lower lip vermilion, Thick vermil... OMIM:619880
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, High palate, Paradoxical respiration OMIM:620011
Arthrogryposis, Distal, Type 3
Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submucous cleft h... OMIM:114300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276575
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Aplasia/Hypoplasia of t... ORPHA:306542
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Tented upper lip vermilion, Micrognathia, Hypoventilation, Deep phil... ORPHA:314655
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Respiratory distress, Micrognathia, Thin upper lip vermilion, Deep philtrum,... ORPHA:329178
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Lethargy, Agitation ORPHA:276580
Benign Samaritan Congenital Myopathy
Lethargy, Narrow mouth ORPHA:324581
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Lethargy, Agitation ORPHA:324575
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Aggressive behavior, Tachypnea, Lethargy, Anorexia OMIM:237310
Pycnodysostosis
Carious teeth, Persistent open anterior fontanelle, Persistence of primary teeth, Micrognathia, D... OMIM:265800
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth OMIM:617102
Holocarboxylase Synthetase Deficiency
Respiratory distress, Lethargy, Tachypnea, Anorexia ORPHA:79242
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Orofaciodigital Syndrome Type 10
Retrognathia, Long philtrum, Cleft soft palate, Micrognathia, Tarsal synostosis, Metatarsal synos... ORPHA:2756
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Head-banging, Unilateral cleft lip, Thick lower lip vermilion, Frequent te... OMIM:619103
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Bradykinesia, Dysphagia ORPHA:240103
Immunodeficiency 95
Respiratory distress OMIM:619773
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy, Hypoventilation, Neonatal death OMIM:618232
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Wormian bones OMIM:166200
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Persistent open anterior fontanelle, Long philtrum, Delayed cranial s... ORPHA:357058
Pycnodysostosis
Abnormality of the dentition, Coronal craniosynostosis, Carious teeth, Dental malocclusion, Hypop... ORPHA:763
Fibrochondrogenesis 1
Joint contracture of the hand, Long philtrum, Narrow mouth, Stillbirth, Widely patent coronal sut... OMIM:228520
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Lethargy ORPHA:289916
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Anorexia, Dyspnea, Hypoxemia ORPHA:1302
Schilbach-Rott Syndrome
Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate, Attention deficit hyperacti... OMIM:164220
Classic Galactosemia
Lethargy, Attention deficit hyperactivity disorder, Depression, Jaundice ORPHA:79239
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Bradykinesia ORPHA:101150
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Anorexia ORPHA:49827
Thyroid Dyshormonogenesis 1
Macroglossia, Lethargy OMIM:274400
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones ORPHA:2787
X-Linked Centronuclear Myopathy
Respiratory distress, High palate ORPHA:596
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Long philtrum, Thin upper lip vermilion OMIM:614741
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial suture closure, Camptodactyly of... ORPHA:83
Tetanus
Respiratory distress, Tachypnea, Dysphagia, Trismus ORPHA:3299
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in childhood, Death in infancy, Dysphagia, High palate, Mandibular pr... OMIM:620278
Heart And Brain Malformation Syndrome
High, narrow palate, Cleft lip, Thick lower lip vermilion, Camptodactyly of finger, Everted lower... OMIM:616920
Multifocal Atrial Tachycardia
Dyspnea, Lethargy, Tachypnea ORPHA:3282
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis OMIM:263000
Orofaciodigital Syndrome Xvii
High, narrow palate, Retrognathia, Median cleft upper lip, Prominent metopic ridge OMIM:617926
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Abnormal temper tantrums, Carious teeth, Head-banging, Downturned corners of mouth, ... ORPHA:177907
Branchiogenic-Deafness Syndrome
Trismus, Branchial fistula, Branchial cyst, Submucous cleft hard palate OMIM:609166
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
W Syndrome
Upper lip pit, Broad uvula, Elbow dislocation, Submucous cleft hard palate, Cubitus valgus, Agene... ORPHA:2804
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Crigler-Najjar Syndrome
Jaundice, Lethargy ORPHA:205
Silver-Russell Syndrome 2
Micrognathia, Delayed closure of the anterior fontanelle, Downturned corners of mouth OMIM:618905
Double Outlet Right Ventricle
Intestinal malrotation, Narrow mouth, Cyanosis, Submucous cleft hard palate, Tachypnea, Cleft palate ORPHA:3426
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Potocki-Shaffer Syndrome
Wormian bones, Short philtrum, Downturned corners of mouth OMIM:601224
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Coronal craniosynostosis, Orbital craniosynostosis, Micrognathia, Micr... OMIM:112240
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Tachypnea, Death in childhood OMIM:615838
Craniolenticulosutural Dysplasia
Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Thin upper lip ... OMIM:607812
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Micrognathia, Malar flattening, Deep philtrum, Esophageal atresia, Cleft pa... OMIM:610536
Stickler Syndrome, Type I
Bifid uvula, Micrognathia, Submucous cleft hard palate, Arthropathy, Arthritis, Osteoarthritis, C... 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
Bifid uvula, Retrognathia, Bruising susceptibility, Cleft soft palate, Tented upper lip vermilion... OMIM:615582
Hartsfield Syndrome
Median cleft upper lip, Cleft upper lip, Hypoplasia of the frontal bone, Cleft palate OMIM:615465
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Wormian bones OMIM:259440
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Triangular mouth, Exertional dyspnea, Dysphagia, High pala... ORPHA:98915
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Open mouth OMIM:619149
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypoplasia of the zygomatic bone, Anteriorly placed anus, Tooth agenesis, Respiratory distress, N... ORPHA:1555
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ve... ORPHA:438216
Pleural Mesothelioma
Respiratory distress, Dyspnea, Dysphagia ORPHA:50251
Carnitine Deficiency, Systemic Primary
Respiratory distress, Lethargy OMIM:212140
Cleft Soft Palate
Cleft soft palate OMIM:119570
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, Reduced subcutaneous adipose tissue, Excessive wrin... OMIM:619950
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Knee contracture, Large fontanelles, Hip contracture, Submucous cleft hard palate, ... OMIM:222765
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Cutis marmorata, Microgna... ORPHA:235
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Delayed cranial suture closure, Micrognathia, Narrow mouth, Death in early adult... OMIM:608612
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate OMIM:619122
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... ORPHA:1452
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Anteriorly placed an... OMIM:615546
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Tachypnea, Necrotizing enterocolitis, Death in infancy OMIM:201475
Isolated Atp Synthase Deficiency
Respiratory distress, Lethargy ORPHA:254913
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Microglossia, Narrow mouth, Mandibular aplasia ORPHA:990
Riboflavin Deficiency
Lethargy OMIM:615026
Osteogenesis Imperfecta, Type Xx
Retrognathia, Agenesis of permanent teeth, Tented upper lip vermilion, Wormian bones, High palate... OMIM:618644
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Dysphagia ORPHA:254875
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival bleeding, Recurrent mandibular subluxations, Gingival overgrowth, Micrognathia, Frontal ... OMIM:225410
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis, Choking episodes, Impaired oropharyngeal swallow response ORPHA:2004
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microglossia, Exaggerated median tongue furrow, Long philtrum, Cleft mandible, Micrognathia, Tent... OMIM:608670
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis ORPHA:464453
Succinic Acidemia
Respiratory distress OMIM:600335
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Exertional dyspnea ORPHA:42
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Respiratory distress, Abnormality of t... ORPHA:2759
Pachyonychia Congenita
Natal tooth, Oral leukoplakia, Respiratory distress, Angular cheilitis, Advanced eruption of teeth ORPHA:2309
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Propionic Acidemia
Lethargy, Tachypnea, Apnea OMIM:606054
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Wormian bones, Stillbirth OMIM:259410
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Velopharyngeal insufficiency, Long philtrum, Intestinal malrotation, Cutis marmorata, Submucous c... OMIM:614701
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Dravet Syndrome
Bradykinesia, Cyanotic episode, Obsessive-compulsive trait, Impulsivity ORPHA:33069
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Open mouth, Gingival overgrowth, Cyanosis, Impulsivity, Lethargy, Hyperactivity, Agitation OMIM:620423
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... ORPHA:2751
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Intestinal edema, Dyspnea, Abnormal soft palate m... ORPHA:100050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Anteriorly placed anus, Respiratory distress, Episodic tachypnea, Tachypnea, Lethargy, Jaundice ORPHA:26793
Breath-Holding Spells
Cyanosis OMIM:607578
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Long philtrum, Respiratory distress, Tented upper lip vermilion, Attention deficit hyperactivity ... OMIM:619383
Citrullinemia Type I
Lethargy, Tachypnea ORPHA:247525
Intellectual Developmental Disorder, Autosomal Dominant 73
Retrognathia, Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Pica, Cleft soft pal... OMIM:620450
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Retrognathia, Respiratory distress, ... ORPHA:2554
Malaria
Respiratory distress ORPHA:673
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Death in infancy, Lethargy, High palate, Narrow palate OMIM:608836
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Lethargy, Stillbirth OMIM:614922
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Natal tooth, Anteriorly placed anus, Respiratory distress, Gingival o... OMIM:123790
Tarp Syndrome
Apnea, Micrognathia, Cyanosis, Alveolar ridge overgrowth, Abnormal duodenum morphology, Glossopto... ORPHA:2886
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Wormian bones OMIM:619795
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Smooth philtrum, Short philtrum, Cleft soft palate, Retrognathia ORPHA:293725
Radio-Renal Syndrome
High, narrow palate, Downturned corners of mouth, Retrognathia, Respiratory distress, Micrognathi... ORPHA:3015
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Hsd10 Disease, Infantile Type
Paroxysmal bursts of laughter, Restlessness, Dysphagia, Cyanosis ORPHA:391428
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, High palate ORPHA:1145
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy... OMIM:610921
Meningococcal Meningitis
Lethargy, Purpura, Petechiae, Anorexia ORPHA:33475
Craniosynostosis 4
Lambdoidal craniosynostosis, Coronal craniosynostosis, Retrognathia, Bicoronal synostosis, Sagitt... OMIM:600775
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Hyperoxemia ORPHA:70589
Sweeney-Cox Syndrome
Velopharyngeal insufficiency, Micrognathia, Narrow mouth, Median cleft palate, Short philtrum, An... OMIM:617746
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dysphagia, Dyspnea, Tongue a... OMIM:211530
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Long philtrum, Anteriorly placed anus, Respiratory distress, Submucous cleft... OMIM:612863
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Hyperactivity, Submucous cleft hard palate OMIM:619239
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:2302
Otosclerosis 1
Otosclerosis OMIM:166800
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Swollen lip ORPHA:100057
Dihydropyrimidinase Deficiency
Lethargy, Anal atresia, Hyperactivity OMIM:222748
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Long philtrum, Delayed cranial suture closure, Death in infancy, Wide ... OMIM:610682
Choanal Atresia
Respiratory distress, Choking episodes, Cyanosis, Chronic sinusitis ORPHA:137914
Gapo Syndrome
High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Delayed cranial ... OMIM:230740
Campomelic Dysplasia
Carious teeth, Long philtrum, Respiratory distress, Apnea, Narrow mouth, Irregular dentition, Sub... OMIM:114290
Apert Syndrome
Lambdoidal craniosynostosis, Bifid uvula, Coronal craniosynostosis, Dental malocclusion, Delayed ... OMIM:101200
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Hyperventilation, Lethargy, Apnea OMIM:229700
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Diaphanospondylodysostosis
Respiratory distress, Micrognathia, Cleft palate OMIM:608022
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Hypoplasia of the maxilla, Delayed eruption of teeth, Carpal osteolysi... OMIM:259600
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly pl... OMIM:117650
Pitt-Hopkins Syndrome
Self-injurious behavior, Tooth malposition, Failure of eruption of permanent teeth, Abnormal patt... ORPHA:2896
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia ORPHA:60032
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... ORPHA:1071
Silver-Russell Syndrome 1
Micrognathia, Downturned corners of mouth, Delayed cranial suture closure OMIM:180860
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Micrognathia, Delayed cranial suture closure ORPHA:1129
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Hypoxemia ORPHA:2140
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Xerostomia, Downturned corners of mouth, Thin upper lip vermilion, Poly... ORPHA:398079
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Lethargy, Short philtrum, Thin upper lip vermilion OMIM:607143
Esophageal Atresia
Barrett esophagus, Cleft lip, Respiratory distress, Intestinal malrotation, Esophagitis, Cyanosis... ORPHA:1199
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Glossitis, Lethargy, Tracheoesophageal fistula, High palate, Stomatitis OMIM:277380
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Anorexia OMIM:611590
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Self... ORPHA:1051
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea, Hypoxemia ORPHA:178320
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Xerostomia, Downturned corners of mouth, Thin upper lip vermilion, Poly... ORPHA:398069
Insulinoma
Polyphagia, Lethargy ORPHA:97279
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Glossitis, Stomatitis, Cleft palate ORPHA:79284
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis ORPHA:335
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Multiple Mitochondrial Dysfunctions Syndrome 1
Lethargy, Death in infancy, Neonatal death OMIM:605711
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Rectoureth... OMIM:603116
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Micrognathia, Unilateral cleft lip, Cleft palate OMIM:616897
Myhre Syndrome
Bifid uvula, Gingival cleft, Hypoplasia of the maxilla, Unilateral cleft lip, Abnormal lip morpho... ORPHA:2588
Susac Syndrome
Lethargy, Apathy ORPHA:838
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Anteriorly placed anus, Retrognathia, Respiratory distress, Micrognath... ORPHA:798
ERI1-related disease
Velopharyngeal insufficiency, Dislocated radial head, Micrognathia, Limited elbow extension, Worm... OMIM:608739
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence OMIM:620183
Restrictive Dermopathy 1
Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous cleft hard ... OMIM:275210
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Dengue Fever
Gingival bleeding, Petechiae, Lethargy, Bruising susceptibility ORPHA:99828
Mogs-Cdg
Retrognathia, Respiratory distress, Apnea, Hypoventilation, High palate ORPHA:79330
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Branchioskeletogenital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Downturned c... ORPHA:1299
Trichinellosis
Lethargy, Apathy, Dysphagia, Trismus ORPHA:863
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cyanosis, Sudden episodic apnea ORPHA:159
Anaplastic Thyroid Carcinoma
Respiratory distress, Tracheoesophageal fistula, Dyspnea, Dysphagia ORPHA:142
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Everted upper lip verm... OMIM:305100
Lateral Meningocele Syndrome
High, narrow palate, Dental crowding, Micrognathia, Smooth philtrum, Wormian bones, High palate, ... ORPHA:2789
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Dysphagia OMIM:620375
Rubinstein-Taybi Syndrome 1
High, narrow palate, Narrow palate, Hypoplasia of the maxilla, Dental crowding, Dental malocclusi... OMIM:180849
Alobar Holoprosencephaly
Bifid uvula, Depression, Abnormal pattern of respiration, Median cleft upper lip, Solitary median... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Depression, Abnormal pattern of respiration, Median cleft upper lip, Solitary median... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Depression, Abnormal pattern of respiration, Median cleft upper lip, Solitary median... ORPHA:93924
Semilobar Holoprosencephaly
Bifid uvula, Depression, Abnormal pattern of respiration, Median cleft upper lip, Solitary median... ORPHA:220386
Otosclerosis 10
Otosclerosis OMIM:615589
Citrullinemia Type Ii
Abnormal eating behavior, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Mania ORPHA:247585
Mandibuloacral Dysplasia
Dental crowding, Delayed cranial suture closure, Abnormal tongue morphology, Micrognathia, High p... ORPHA:2457
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Delayed cranial suture closure, Open bite, Craniosynostosis, Narrow pa... ORPHA:794
Craniofaciofrontodigital Syndrome
Long philtrum, Premature skin wrinkling, Respiratory distress, Gingival overgrowth, Prominent med... ORPHA:363705
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Lethargy, Apathy, Tachypnea, Anorexia, Jaundice ORPHA:20
Congenital Myopathy 22B, Severe Fetal
Dental crowding, Retrognathia, Respiratory distress, Micrognathia, Tented upper lip vermilion, Tr... OMIM:620369
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Hypodontia, Restlessness ORPHA:544503
Infantile Liver Failure Syndrome 2
Jaundice, Lethargy OMIM:616483
Diamond-Blackfan Anemia 10
Respiratory distress, Micrognathia, Malar flattening, Cleft palate OMIM:613309
Glutaric Acidemia Type 3
Lethargy, Impulsivity ORPHA:35706
Necrotizing Enterocolitis
Lethargy, Apnea, Cyanosis ORPHA:391673
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Prolonged neonatal jaundice ORPHA:226313
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress OMIM:619466
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Duodena... OMIM:619227
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Nipah Virus Disease
Respiratory distress, Anorexia ORPHA:99825
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo... OMIM:619322
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Micrognathia, Cleft soft palate, Hypoxemia, Submucous cleft soft palate ORPHA:2282
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Delayed cranial suture closure, Metopic synostosis, Craniosynostos... OMIM:175700
Tricuspid Atresia
Cyanosis ORPHA:1209
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Wormian bones, Abnormality of the ankle ORPHA:970
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Hypoxemia ORPHA:140896
Scrub Typhus
Dyspnea, Lethargy ORPHA:83317
Laryngomalacia
Respiratory distress OMIM:150280
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Respiratory distress, Micrognathia,... OMIM:119600
1Q44 Microdeletion Syndrome
Intestinal malrotation, Micrognathia, Exaggerated cupid's bow, Smooth philtrum, Thin vermilion bo... ORPHA:238769
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Lethargy OMIM:251000
Craniosynostosis 6
Craniosynostosis, Bicoronal synostosis, Right unilambdoid synostosis, Delayed cranial suture closure OMIM:616602
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Large fontanelles, Death in childhood, Death in infancy, Wormian bones, Deep philtrum, Flat aceta... OMIM:613320
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Aggressive behavior, Lethargy, Death in childhood, Erythema OMIM:618321
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Joint contracture of the hand, Dental crowding, Long philtrum, Clef... OMIM:305450
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Respiratory distress, Micrognathia, Death in childhood, Malar flatteni... OMIM:613848
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Micrognathia, Dislocated radial head, Hip dislocation, Downturned... OMIM:268310
Orofaciodigital Syndrome Type 4
Abnormal joint morphology, Micrognathia, Perineal fistula, Rectal atresia, Anal atresia, Rectovag... ORPHA:2753
Typhoid
Lethargy ORPHA:99745
Frank-Ter Haar Syndrome
Dental malocclusion, Delayed cranial suture closure, Gingival overgrowth, Micrognathia, Thin uppe... OMIM:249420
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Otosclerosis 4
Otosclerosis OMIM:611571
Osteogenesis Imperfecta, Type Xviii
Abnormality of the dentition, Micrognathia, Wormian bones OMIM:617952
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Velopharyngeal insufficiency, Hypoplasia of the zygomatic bone, Dislocated radial head, Micrognat... OMIM:620663
Isovaleric Acidemia
Lethargy OMIM:243500
Acute Interstitial Pneumonia
Dyspnea, Tachypnea, Hypoxemia, Cyanosis ORPHA:79126
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Retrognathia, Open mouth, Submucous cleft hard palate, Aggressive b... OMIM:192430
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Recurrent hand flapping, Submucous cleft hard palate, Thin upper lip... OMIM:619680
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Delayed cranial suture closure ORPHA:93324
Meckel Syndrome 14
Cyanosis, Micrognathia, Microretrognathia, Retrognathia OMIM:619879
Sepsis In Premature Infants
Petechiae, Cyanosis, Enterocolitis, Dyspnea, Jaundice, Nasal flaring, Purpura ORPHA:90051
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Apnea OMIM:210200
Tenorio Syndrome
Delayed cranial suture closure, Recurrent aphthous stomatitis, Wide mouth, Macroglossia, Mandibul... OMIM:616260
Cholera
Palmoplantar cutis laxa, Tachypnea, Lethargy, Hyperventilation, Miscarriage ORPHA:173
Congenital Heart Block
Cyanosis ORPHA:60041
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl... OMIM:300990
Posterior Urethral Valve
Lethargy, Retrognathia ORPHA:93110
Meier-Gorlin Syndrome 1
Hypoplasia of the maxilla, Respiratory distress, Micrognathia, Narrow mouth, Death in infancy, Mi... OMIM:224690
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Native American Myopathy
Bifid uvula, Downturned corners of mouth, Micrognathia, Submucous cleft soft palate, High palate,... ORPHA:168572
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Attention deficit hyperactivity disorder, Lethargy, Prolonged neonatal jaundice, Macr... ORPHA:90674
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Agitation ORPHA:263455
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Respiratory distr... ORPHA:404448
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Micrognathia, Smooth philtrum, Wormian bones, Vertebral fusion, H... OMIM:130720
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Wormian bones, Wide anterior fontanel OMIM:610915
Neu-Laxova Syndrome
Bifid uvula, Retrognathia, Pterygium, Micrognathia, Submucous cleft hard palate, Everted lower li... ORPHA:2671
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, High palate OMIM:619272
Geroderma Osteodysplasticum
Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Wormian bones, Mandibular... 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, Short philtrum, Micrognathia, Natal tooth OMIM:617237
Kniest Dysplasia
Respiratory distress, Malar flattening, Cleft palate OMIM:156550
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Wormian bones, Limitation of knee mobility, Thin vermil... OMIM:614856
Desmosterolosis
Bifid uvula, Retrognathia, Intestinal malrotation, Micrognathia, Narrow mouth, Submucous cleft ha... ORPHA:35107
White-Sutton Syndrome
Bifid uvula, Downturned corners of mouth, Micrognathia, Short philtrum, Wormian bones, Thin vermi... OMIM:616364
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate OMIM:271225
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, High pal... OMIM:618106
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent... ORPHA:364577
Buratti-Harel Syndrome
Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft hard palate OMIM:619314
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea ORPHA:444013
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Large fontanelles, Narrow mouth, Wide cranial sutures, Wormian bones,... OMIM:219150
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Long philtrum, Thick lower lip vermilion OMIM:614407
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Dyspnea, Lethargy, Exertional dyspnea, 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
Acrocyanosis, Orthodeoxia, Exertional dyspnea ORPHA:2032
Spondyloepiphyseal Dysplasia Congenita
Bifid uvula, Respiratory distress, Malar flattening, Cleft palate, Pierre-Robin sequence OMIM:183900
Histiocytoid Cardiomyopathy
Lethargy, Tachypnea, Cyanosis, Cleft palate ORPHA:137675
Cole-Carpenter Syndrome
Abnormal dental enamel morphology, Wormian bones, Micrognathia, Delayed eruption of teeth ORPHA:2050
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Cyanosis, Cleft palate, Midgut malrotation ORPHA:2326
Cirrhosis, Familial
Jaundice, Lethargy, Esophageal varix OMIM:215600
Pseudo-Torch Syndrome 2
Lethargy, Petechiae OMIM:617397
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia ORPHA:264675
Myotonic Dystrophy 1
Respiratory distress, Dysphagia, Obsessive-compulsive trait OMIM:160900
Familial Nasal Acilia
Respiratory distress, Dyspnea, Chronic sinusitis ORPHA:922
Tularemia
Respiratory distress, Oral ulcer ORPHA:3392
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, High palate, Exertional dyspnea, Death in childhood OMIM:220110
Complete Atrioventricular Septal Defect
Lethargy, Tachypnea, Intercostal retractions, Cyanosis ORPHA:1329
Pfeiffer Syndrome Type 2
Respiratory distress, Intestinal malrotation, Malar flattening, High palate, Anal atresia, Cleft ... ORPHA:93259
Aromatic L-Amino Acid Decarboxylase Deficiency
Tongue thrusting, Lethargy, Apnea OMIM:608643
Osteoglophonic Dysplasia
Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum, Respirator... OMIM:166250
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Delayed cranial suture closur... OMIM:601812
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Smooth philtrum, Lethargy, Jaundice, Glossitis, Stomatitis ORPHA:79282
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Macroglossia, Lethargy ORPHA:90673
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Abnormality of the dentition, Long philtrum, Respiratory distress, Smooth philtrum, ... OMIM:300968
Avian Influenza
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia, Miscarriage ORPHA:454836
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
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Gastritis, Tachypnea, A... ORPHA:31826
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Micrognathia, Wide mouth, Abnormal parotid gland morphology, Cle... OMIM:154500
Basal Ganglia Disease, Biotin-Thiamine Responsive
Lethargy, Dysphagia OMIM:607483
Chiari Malformation Type Ii
Dysphagia, Cyanosis OMIM:207950
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Dysphagia OMIM:620166
Baraitser-Winter Cerebrofrontofacial Syndrome
Retrognathia, Long philtrum, Delayed cranial suture closure, Micrognathia, Large fontanelles, Ost... ORPHA:2995
Thyroid Lymphoma
Respiratory distress, Dyspnea, Dysphagia ORPHA:97285
Holocarboxylase Synthetase Deficiency
Hyperventilation, Tachypnea, Lethargy OMIM:253270
Autosomal Dominant Progressive External Ophthalmoplegia
Depression, Bipolar affective disorder, Lethargy, Exertional dyspnea, Bradykinesia, Dysphagia ORPHA:254892
Wrinkly Skin Syndrome
Congenital hip dislocation, Carious teeth, Microretrognathia, Delayed eruption of teeth, Long phi... OMIM:278250
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Mandibular prognathia, Delayed cranial suture closure, Abnormal... ORPHA:2658
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Self-mutilation, Multiple gastric polyps, Prolonged neonatal jaundice, Acroc... OMIM:225750
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Wormian bones, Protrusio acetabuli OMIM:610968
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Cardiofaciocutaneous Syndrome 1
Abnormality of the dentition, Dental malocclusion, Open bite, Micrognathia, Open mouth, Submucous... OMIM:115150
Congenital Lobar Emphysema