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Gene: Dlx2 MGI:94902

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
distal-less homeobox 2
Synonyms:
DII A,  Tes-1,  Dlx-2

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 Dlx2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dlx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Perching Syndrome
Respiratory distress, Cyanosis, Feeding difficulties, High palate, Dysphagia OMIM:617055
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... ORPHA:141152
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting ORPHA:313906
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, S... ORPHA:137935
Pierre Robin Syndrome
Neonatal respiratory distress, Feeding difficulties in infancy, Pierre-Robin sequence, Upper airw... OMIM:261800
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t... OMIM:620045
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties OMIM:616341
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Dental crowding, Micrognathia, Glossoptosis, Mandibular condyle apla... OMIM:614669
Primary Effusion Lymphoma
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:48686
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ... ORPHA:2004
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth ORPHA:2901
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Cough, Inability to walk, Nasogastric tube fe... ORPHA:90117
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea, Feeding difficulties OMIM:610992
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Velopharynge... OMIM:614701
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Micrognathia, Dyspnea, Gingival fibromatosis, Gin... ORPHA:1832
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... OMIM:185800
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Achalasia-Microcephaly Syndrome
Mandibular prognathia, Achalasia, Macrotia, Micrognathia ORPHA:929
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Adiposis Dolorosa
Abdominal distention, Constipation, Painful subcutaneous lipomas OMIM:103200
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... ORPHA:1302
Isolated Pierre Robin Syndrome
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate ORPHA:718
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... OMIM:184460
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... OMIM:605809
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... OMIM:614399
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Triple A Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Respiratory insufficiency, Achalasia, Mo... ORPHA:869
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Conductive hearing impai... ORPHA:99772
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Feeding difficult... ORPHA:199306
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Micrognathia, Feeding difficulties, Wide mouth, Widely s... OMIM:300934
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Thyroid Hemiagenesis
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95719
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Malabsorption, Abdominal distention, Gastr... OMIM:613662
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Tetrasomy 18P
Low-set, posteriorly rotated ears, Narrow mouth, Thin vermilion border, Gait disturbance, Long ph... ORPHA:3307
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Posteriorly rotated ears, Micrognathia, High palate, Prenatal death, Low... OMIM:618393
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Micrognathia, Cleft lip,... OMIM:301022
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Feeding difficulties, Choking episodes,... ORPHA:137914
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Myasthenic Syndrome
Congenital hip dislocation, Gastroesophageal reflux, High palate, Frontalis muscle weakness, Wadd... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Gastroesophageal reflux, High palate, Frontalis muscle weakness, Wadd... ORPHA:98914
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Hypoglossia With Situs Inversus
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Hi... OMIM:612776
Dystonia-Deafness Syndrome 1
Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Pseudobulbar paralysis, Dysphagi... OMIM:607371
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Legg-Calvé-Perthes Disease
Joint dislocation, Skeletal muscle atrophy, Cartilage destruction, Abnormality of the dentition ORPHA:2380
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Hip dislocation, G... ORPHA:436174
Severe X-Linked Mitochondrial Encephalomyopathy
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... ORPHA:238329
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced behavior, Res... ORPHA:100924
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Cough, Sensorineural hearin... ORPHA:1018
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
2q33.1 deletion syndrome
Feeding difficulties in infancy, High palate, Cleft palate DECIPHER:51
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weaknes... OMIM:300580
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... ORPHA:254864
Scleromyxedema
Abnormality of the gastrointestinal tract, Aged leonine appearance, Hypoperistalsis, Narrow mouth... ORPHA:167635
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Aganglionic megacolon, Posteriorly rotated ears, Hypercapnia, Apnea, Central hyp... OMIM:209880
Schinzel-Giedion Syndrome
Respiratory distress, Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Short phi... ORPHA:798
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Micrognathia, High, narrow p... OMIM:619941
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... ORPHA:137888
Folinic Acid-Responsive Seizures
Respiratory distress, Broad-based gait, Ataxia, Apnea, Abdominal distention, Difficulty walking ORPHA:79097
Multiple Synostoses Syndrome 1
Carpal synostosis, Stapes ankylosis, Thin upper lip vermilion, Proximal/middle symphalangism of 5... OMIM:186500
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cleft palate, Feeding diff... OMIM:600987
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... ORPHA:226313
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... ORPHA:50251
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Arthrogryposis Multiplex Congenita 6
Death in infancy, Akinesia, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Hypoperistalsis,... OMIM:611376
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Feeding diff... ORPHA:596
Posterior Column Ataxia With Retinitis Pigmentosa
Broad-based gait, Flexion contracture of finger, Ataxia, Optic atrophy, Joint contracture of the ... OMIM:609033
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Mi... OMIM:611890
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Stapes ankylosis, Papilledema, Prominent metopi... OMIM:614188
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Sensorineural hearing impairment, Orofacial cleft, Macroglossia, Dyspha... ORPHA:79107
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pu... ORPHA:2414
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears OMIM:608363
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Malaria
Nausea and vomiting, Gait imbalance, Respiratory distress ORPHA:673
Malignant Peritoneal Mesothelioma
Dyspnea, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia ORPHA:77260
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Popl... OMIM:601492
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory insufficiency, High ... OMIM:201550
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Thin upper lip vermilion, ... OMIM:615042
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain ORPHA:168829
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Cutis marmorata, Livedo reticularis, Dysphagia OMIM:615750
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... ORPHA:100057
Classic Glucose Transporter Type 1 Deficiency Syndrome
Choreoathetosis, Cyanosis, Ataxia, Central apnea ORPHA:71277
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ... OMIM:620265
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... ORPHA:353253
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Feeding difficulties, Gastroesophageal reflux, Decreased ... OMIM:616974
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Acrocyanosis ORPHA:2400
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Overfolded helix... ORPHA:79113
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti... OMIM:218000
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Ataxia,... OMIM:211530
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... ORPHA:100050
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Monosodium Glutamate Sensitivity
Dyspnea, Nausea, Flushing OMIM:231630
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, Achalasia ORPHA:3239
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Inappropriate beha... OMIM:168605
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Respiratory insufficiency OMIM:600972
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... ORPHA:254875
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Gait disturbance, Increased overbite,... OMIM:618761
Hypoadrenocorticism, Familial
Feeding difficulties in infancy, Cyanosis, Vomiting, Apnea OMIM:240200
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... OMIM:216300
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa... ORPHA:2257
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting ORPHA:464453
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Qazi-Markouizos Syndrome
High, narrow palate, Abdominal distention, Hypoplasia of teeth, Chronic constipation, Open mouth,... ORPHA:3010
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Falls ORPHA:240085
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Telangiectasia of the skin, Micrognathia, Hydr... OMIM:616007
Osteogenesis Imperfecta, Type Iv
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166220
Solar Urticaria
Dyspnea, Abnormal tongue morphology, Angioedema, Wheezing, Urticaria, Abnormal lip morphology, De... ORPHA:97230
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption OMIM:606824
Hereditary Methemoglobinemia
Athetosis, Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Moebius Syndrome
Respiratory distress, Abnormal pinna morphology, Micrognathia, Feeding difficulties in infancy, A... OMIM:157900
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Vomiting, Aggressive behavior OMIM:237310
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... OMIM:613717
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Dyspnea, Diarrhea, Erythema, Darier's sign, Dermatographic urticaria, Vomiting, G... ORPHA:79457
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... ORPHA:264675
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con... OMIM:619482
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Dyspnea, Diarrhea, Co... ORPHA:3386
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux OMIM:619793
Congenital Myopathy 12
Death in infancy, Akinesia, Respiratory insufficiency due to muscle weakness, High, narrow palate... OMIM:612540
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Micrognathia, Respiratory insuf... ORPHA:1143
Immunodeficiency 70
Celiac disease, Achalasia, Colitis, Recurrent sinusitis OMIM:618969
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Esophageal stenosis, Ataxia, Neonatal respiratory distress, Feeding diff... OMIM:615510
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Lo... OMIM:202650
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysdiadochokinesis, Gait disturbance, Dysphagia, Movement abnormality of th... ORPHA:98805
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Neuromuscular dysphagia, Falls, Gait imbalance, Loss o... ORPHA:240094
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Apnea, Impulsivity, Protruding tongue, Aggressive behavior, Inability to walk, ... OMIM:619580
Orofaciodigital Syndrome Xix
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... OMIM:620107
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... ORPHA:411703
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Myopathy And Diabetes Mellitus
Respiratory distress, Peripheral axonal neuropathy, Inability to walk, Sensorineural hearing impa... ORPHA:2596
Succinic Acidemia
Respiratory distress OMIM:600335
Nipah Virus Disease
Nausea and vomiting, Respiratory distress, Anorexia, Cough ORPHA:99825
Coffin-Siris Syndrome 11
Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia, Downturned corn... OMIM:618779
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron... OMIM:620233
Ovarian Fibroma
Abdominal distention, Odontogenic keratocysts of the jaw, Pleural effusion, Abdominal pain ORPHA:314473
Tetrasomy 5P
Respiratory distress, Cyanosis, Posteriorly rotated ears, Micrognathia, Wide anterior fontanel, H... ORPHA:3309
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Diarrhea, Feeding difficulties, Gait ataxia, Vomiting OMIM:612075
Encephalopathy, Ethylmalonic
Death in infancy, Ataxia, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae OMIM:602473
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... ORPHA:298
Alternating Hemiplegia Of Childhood
Respiratory distress, Exaggerated cupid's bow, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Apnea... ORPHA:2131
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Abdominal distention, Jaundice, Gastrointestinal dysmot... ORPHA:90051
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Marcus-Gunn Syndrome
Cleft lip, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft palate ORPHA:91412
Intestinal Botulism
Nausea and vomiting, Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea,... ORPHA:178481
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding diffi... ORPHA:927
Osteogenesis Imperfecta, Type I
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166200
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Micrognat... OMIM:616331
Chiari Malformation Type Ii
Cyanosis, Ataxia, Feeding difficulties, Dysphagia, Inspiratory stridor OMIM:207950
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Respiratory insufficiency, Conductive he... ORPHA:93262
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Akinesia, Micrognathia, Narrow mouth, R... OMIM:608013
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal cranial nerve morphology, Holop... ORPHA:990
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Aggressive behavior, Hypoplasia of the maxilla, Inability to walk, Hip dislocation, Protr... ORPHA:481152
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen, Death in infancy OMIM:277300
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, F... OMIM:618426
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Optic atrophy, Protruding ear, Smooth philtr... OMIM:618737
Letterer-Siwe Disease
Stomatitis, Abdominal distention, Jaundice, Dyspnea OMIM:246400
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest, Feeding difficulties OMIM:620203
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased... OMIM:608104
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorine... OMIM:606164
Crouzon Syndrome
Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Respiratory insufficiency, Multiple sutu... ORPHA:207
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Feeding difficulties, Thin vermilion border, Short philtrum, ... ORPHA:261304
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Difficulty walking OMIM:619345
Congenital Myopathy 9A
Death in infancy, Tongue fasciculations, Akinesia OMIM:618822
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Posteriorly rotated ears, Camptodactyly of finger, Akinesia, Micrognathia,... ORPHA:994
Meckel Syndrome, Type 8
Abdominal distention, Cleft palate, Cleft upper lip OMIM:613885
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Feeding difficulties, Low-set ears, Dysphagia, Agenesis ... ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Feeding difficulties, Choreo... ORPHA:79312
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Hypoplastic frontal s... OMIM:136760
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Epistaxis, Impulsivity, Aggressive behavior, Hypoplasia of the maxilla, D... ORPHA:293939
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk OMIM:617977
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Micrognathia, Flexion contract... OMIM:618186
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Fabry Disease
Nausea and vomiting, Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Anor... ORPHA:324
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Asthma, ... OMIM:610978
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Tented upper lip vermilion, Inability to walk, Optic atrophy, Feeding diffi... OMIM:619383
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Branchiootic Syndrome
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... ORPHA:52429
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... ORPHA:3145
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Chronic otitis media, Agene... OMIM:619466
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Micrognathia, Dyspnea, High, narrow palate, Optic atrophy, Feeding difficul... ORPHA:2707
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Gastrointestinal dysmotility, Optic atrophy, Choreoathetosis, Dysphagia, ... ORPHA:391428
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Facial diplegia, Distal amyotrophy, Distal arthrogryposis,... OMIM:616287
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Micrognathia, Feeding difficulties in infancy, Craniosynostosis, Knee ... ORPHA:284417
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Abdominal pain, Feeding difficulties, Respiratory failure, Dysphagi... OMIM:620166
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Hearing impairment OMIM:221350
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... ORPHA:36238
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Ankle flexion contracture, Micrognathia, High, narrow palate, Optic... OMIM:608799
Bardet-Biedl Syndrome 16
Recurrent otitis media, Respiratory distress, Hearing impairment OMIM:615993
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Mandibular prognathia, Abnormality of the knee, Respiratory distress, Hypoventilat... ORPHA:98915
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Breath-Holding Spells
Cyanosis OMIM:607578
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... ORPHA:454836
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Respiratory distress, Abdominal pain, Dyspnea, Difficulty walking, Cough ORPHA:86812
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St... ORPHA:142
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Aarskog-Scott Syndrome
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of f... ORPHA:915
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of... ORPHA:776
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormality of the dentition, Celiac disease, Interstitial pneumonitis, Polyarticular arthritis, ... OMIM:615952
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Retinal telangiectasia, Micrognathia, Hypoplasia o... OMIM:620157
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Thyroid Hypoplasia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95720
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... ORPHA:75233
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thin upper lip vermilion, Micrognathia, Aggressive behavior, Tooth malposition, Fee... ORPHA:529962
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... OMIM:615706
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prot... ORPHA:169186
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Craniosynostosis, Hearing abnormality, Hydrocephalus, Aplasia/Hypoplasia of... ORPHA:1555
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux, Apnea ORPHA:1949
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal jo... ORPHA:1145
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Carious teeth, Flat acetabular roof, Widely spaced teeth, Thick vermilion b... OMIM:617102
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Microtia, Flexion contracture, Congenital pyloric atresia OMIM:612138
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties... OMIM:620278
Isolated Childhood Apraxia Of Speech
High, narrow palate, Overfolded helix, Submucous cleft hard palate ORPHA:209908
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Death in infancy, Abnormality of the gastrointestinal tract, Intestinal malr... ORPHA:2241
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Feeding difficulties, Difficulty walking OMIM:617239
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Posteriorly rotated ears, Facial palsy, Micrognathia, High, narrow pal... ORPHA:2780
Robinow Syndrome, Autosomal Recessive 2
Posteriorly rotated ears, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival... OMIM:618529
Diaphanospondylodysostosis
Respiratory distress, Cleft palate ORPHA:66637
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Sensorineural he... ORPHA:2712
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, A... ORPHA:330015
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the knee, Cleft soft palate, Micrognathia, Abnormality of the wrist, Nasogastric t... ORPHA:93316
8Q22.1 Microdeletion Syndrome
Underfolded helix, Abnormal pinna morphology, Camptodactyly of finger, Craniosynostosis, Hypoplas... ORPHA:178303
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Aggressive behavior, Hypoplasia of the maxilla, Protruding ear, High palate ORPHA:85279
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention... ORPHA:92050
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Conductive hearing impairment, Abnormal repetitive mannerisms, Oppos... ORPHA:580
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Akinesia, Multiple pterygia, Micrognathia, Cleft palate, Low... OMIM:253290
Congenital Diaphragmatic Hernia
Hypoxemia, Intestinal malrotation, Respiratory distress ORPHA:2140
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Respiratory distress, Ataxia, Anorexia, Tachypnea ORPHA:79242
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Neonatal dea... OMIM:615524
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Optic atrophy, Feeding difficulties ORPHA:26792
Kniest Dysplasia
Respiratory distress, Hip contracture, Enlarged joints, Tracheomalacia, Abnormal cartilage collag... OMIM:156550
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea... ORPHA:314655
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... ORPHA:363417
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate, Knee flexion contracture, Genu valgum, Fixed elbow flexion, Disl... ORPHA:166016
Liver Failure, Infantile, Transient
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, J... OMIM:613070
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Bowel incontinence, Wide anterior fontanel, Hydrocephalus, R... OMIM:616482
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Posteriorly rotated ears, Craniosynostosis, Feeding difficulti... OMIM:123790
Native American Myopathy
Skeletal muscle atrophy, Muscle fiber atrophy, Micrognathia, Conductive hearing impairment, Abnor... ORPHA:168572
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h... ORPHA:1529
Distal 17P13.1 Microdeletion Syndrome
Limited elbow movement, Protruding ear, Hypoplasia of the zygomatic bone, High palate, Increased ... ORPHA:319171
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal r... OMIM:620275
Otosclerosis 10
Otosclerosis OMIM:615589
Esophageal Atresia
Respiratory distress, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal an... ORPHA:1199
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... ORPHA:79126
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Protruding ear OMIM:618302
Van Maldergem Syndrome 1
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Tracheomalacia, Micrognath... OMIM:601390
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia OMIM:613561
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... OMIM:614299
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Death in infancy, Neonatal respiratory distress, Akinesia, Micrognathia, Hip d... OMIM:618947
Peritoneal Cystic Mesothelioma
Abdominal distention, Constipation, Abdominal pain ORPHA:168816
Ear-Patella-Short Stature Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid... ORPHA:2554
Mirage Syndrome
Hydrocephalus, Chronic diarrhea, Esophageal stricture, Gastroesophageal reflux, Aspiration pneumo... OMIM:617053
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Flared elbow metaphyses, Micrognathia ORPHA:1423
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Hyperactivity, Asthma, Wide mouth, Gait disturbance, Protuberant abdomen, Lo... ORPHA:457485
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip... ORPHA:245
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... ORPHA:51890
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Abnormal pinna morphology, Micrognathia, Wid... OMIM:217980
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Intermittent jaundice... ORPHA:100085
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Diarrhea, Erythema, ... ORPHA:343
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... ORPHA:330021
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Tarsal synostosis, Hypoplasia of the maxill... ORPHA:1307
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Neonatal death OMIM:300219
Postencephalitic Parkinsonism
Akinesia, Abnormal respiratory system physiology, Dysphagia, Vomiting, Cough, Open mouth ORPHA:97349
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Optic atrophy, Feeding difficult... ORPHA:99742
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Esophageal atresia, Deep phi... OMIM:610536
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Peripheral axonal neuropathy, Axonal degeneration, Paradoxical respiration,... OMIM:620011
Tarp Syndrome
Low-set, posteriorly rotated ears, Broad-based gait, Cyanosis, Apnea, Micrognathia, Pierre-Robin ... ORPHA:2886
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Feeding difficulties in infancy, Esophageal atr... ORPHA:87
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Cyanosis, Micrognathia, Abdominal distention, Pneumot... OMIM:619879
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Ataxia, Aggressive behavior, Wide anterior ... ORPHA:457279
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Microtia, Narrow mouth, Thickened helices, Malar flattening, Long phil... ORPHA:261295
Double Outlet Right Ventricle
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Feeding d... ORPHA:3426
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal oral mucosa morphology, Micr... ORPHA:1968
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Feeding difficulties OMIM:615597
Niemann-Pick Disease, Type A
Feeding difficulties in infancy, Inability to walk, Athetosis, Vomiting, Constipation, Protuberan... OMIM:257200
Cirrhosis, Familial
Abdominal distention, Jaundice, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hyperte... OMIM:215600
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Sensorineural hearing impairment, Submucous cleft hard palate, Osteoar... OMIM:108300
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Hearing abnorm... ORPHA:2412
Achondrogenesis Type 1A
Abdominal distention, Long philtrum ORPHA:93299
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Aggressive behavior, Dysplastic corpus callosum, Sensorineural hearing impairment, Genu... ORPHA:488627
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia ORPHA:93950
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, ... ORPHA:1876
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy, Myopathy, Neonatal death, Hearing impairment OMIM:618237
Shprintzen-Goldberg Craniosynostosis Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Genu recurvatum, Micrognathia, Feeding diffi... OMIM:182212
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Ach... OMIM:231550
Hydrolethalus
Low-set, posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Cleft palate, Gingi... ORPHA:2189
Manganese Poisoning
Akinesia, Aggressive behavior, Hypersexuality, Gait disturbance, Inappropriate laughter, Compulsi... ORPHA:306682
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Tetanus
Respiratory distress, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Abnormal autonomic ... ORPHA:3299
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Long p... ORPHA:90653
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Deep philtrum, Aggressive behavior, Dysphagia ORPHA:289483
Idiopathic Neonatal Atrial Flutter
Feeding difficulties in infancy, Tachypnea, Respiratory distress ORPHA:45452
Coffin-Lowry Syndrome
Delayed eruption of teeth, Death in early adulthood, Craniofacial hyperostosis, Abnormal dental m... ORPHA:192
Pitt-Hopkins Syndrome
Gait ataxia, Gastroesophageal reflux, Short philtrum, Thickened helices, Acrocyanosis, Hyperventi... ORPHA:2896
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Ata... ORPHA:438216
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Patellar apl... OMIM:613805
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Fl... OMIM:616165
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia o... ORPHA:2759
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix, Unilateral... OMIM:619122
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Feeding difficulties, Peripheral demyelination, Hearing impairment OMIM:616733
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea, Intestinal malrotation, Hypoperistalsis OMIM:613834
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... OMIM:123500
Nephrotic Syndrome, Type 1
Pyloric stenosis, Neonatal respiratory distress, Gastroesophageal reflux, Abdominal distention OMIM:256300
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abn... ORPHA:3201
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Micrognathia, Hydrocephalus, Cleft palate, Hydranencephaly, Pterygium, Agenesis of corp... OMIM:225790
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Hydrocephalus, Cupped ear, S... OMIM:612863
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, L... ORPHA:2347
Ethylmalonic Encephalopathy
Diarrhea, Acrocyanosis, Ataxia, Petechiae ORPHA:51188
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Feeding difficulties, Stridor, Gastroesophageal reflux, Protubera... OMIM:230900
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu va... OMIM:608154
Van Maldergem Syndrome 2
Irregular dentition, Wide cranial sutures, Tented upper lip vermilion, Tracheomalacia, Micrognath... OMIM:615546
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, Micrognathia, Protruding ear, High palate, Recurrent otitis m... ORPHA:3304
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Abnormal pinna morphology, Wide anterior fontanel, Jaundice, Vomiting, Neon... OMIM:231680
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent antihelix, Shor... ORPHA:293725
Episodic Ataxia Type 1
Choreoathetosis, Tip-toe gait, Nausea, Respiratory distress ORPHA:37612
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... ORPHA:85443
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Achalasia, Familial Esophageal
Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Death in infancy, Abdominal distention, Alveolar ridge overgrowth, Clef... OMIM:235255
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Gastroeso... OMIM:619950
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Inability to walk, Wrist swelling, Carpa... OMIM:166300
Birk-Barel Syndrome
Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Feeding diffi... OMIM:612292
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submuco... OMIM:114300
Schilbach-Rott Syndrome
Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi... OMIM:164220
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Tented upper lip vermilion, Cleft soft palate, Eosinophi... OMIM:615582
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia, Feeding difficulties OMIM:619911
Branchiootorenal Syndrome 1
Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont... OMIM:113650
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Nausea ORPHA:521219
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Restlessness, Hyperactivity, Thin upper lip vermilion, Micrognathia, Hypop... OMIM:300534
7Q31 Microdeletion Syndrome
Hyperactivity, Hypoplasia of the maxilla, Nasogastric tube feeding in infancy, Hypoplasia of the ... ORPHA:251061
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Cree Mental Retardation Syndrome
Posteriorly rotated ears, Cleft soft palate, Low-set ears, Micrognathia OMIM:606851
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Ataxia, Inability to walk, Feeding difficulties, Athetosis, Esophagitis, Truncal a... OMIM:615356
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Gastroesophageal r... OMIM:618249
Oromandibular Dystonia
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, D... ORPHA:93958
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting ORPHA:677
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Inspiratory stridor, I... OMIM:604377
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Pyloric stenosis, Hyd... ORPHA:2409
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... ORPHA:51608
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Congenital Heart Block
Feeding difficulties in infancy, Pleural effusion, Cyanosis, Crackles ORPHA:60041
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Abnormal autonomic nervous system physiology, ... ORPHA:247234
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick lower lip vermi... OMIM:613804
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Submu... OMIM:619103
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Gastrointestinal infarctions, Pleural em... ORPHA:2038
Meier-Gorlin Syndrome 1
Respiratory distress, Genu recurvatum, Micrognathia, Feeding difficulties in infancy, Hypoplasia ... OMIM:224690
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion,... ORPHA:329178
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Slc35A1-Cdg
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage ORPHA:238459
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Macrotia, Thick lower lip vermilion, Prominent antihelix, Joint contracture of the 5th finger, Tr... OMIM:614407
Intellectual Developmental Disorder, Autosomal Dominant 58
Posteriorly rotated ears, Facial hypotonia, Dental crowding, Protruding tongue, Submucous cleft h... OMIM:618106
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Respiratory distress, Retrognathia, Dentinogenesis i... ORPHA:166272
Acute Intermittent Porphyria
Nausea and vomiting, Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respira... ORPHA:79276
Cerebrocostomandibular Syndrome
Anal stenosis, Congenital hip dislocation, Posteriorly rotated ears, Cleft soft palate, Micrognat... OMIM:117650
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate, Uplifted earlobe OMIM:620183
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Sensorineural hear... OMIM:109120
Congenital Fibrinogen Deficiency
Cyanosis, Abdominal pain, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemo... ORPHA:335
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Death in childhoo... OMIM:220110
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Choreoathetosis, Respiratory distress, Nausea and vomiting ORPHA:289916
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Hyperactivity, Dental crowding, Micrognathia, Hypoplasia of the maxilla... OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Chronic constipation, Hypoplasia of the maxilla, High palate OMIM:300676
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention, Jaundice OMIM:618528
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Carpenter Syndrome 1
Abnormal pinna morphology, Sagittal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pe... OMIM:201000
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Smooth philtrum OMIM:614526
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Posteriorly rotated ears, Decreased nerve conduction velocity, Simple ear, ... OMIM:618733
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Angelman Syndrome
Mandibular prognathia, Broad-based gait, Hyperactivity, Ataxia, Protruding tongue, Feeding diffic... OMIM:105830
Cohen Syndrome
Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Cubitus valgus, High, n... OMIM:216550
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Ataxia, Tracheomalacia, Micrognathia, Feeding difficulties in... ORPHA:314679
Mohr Syndrome
Wormian bones, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla... OMIM:252100
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Jaundice, Dysp... ORPHA:160
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Sialuria
Thin upper lip vermilion, Macroglossia, High palate, Protuberant abdomen, Long philtrum, Attentio... OMIM:269921
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Craniosynostosis, Prominent crus of helix, External ear malforma... ORPHA:794
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i... OMIM:106260
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Protruding ear, Genu valgum, Hypoplasia of the zygomatic bone, Low-set ear... ORPHA:1778
Myotonic Dystrophy 1
Feeding difficulties in infancy, Obsessive-compulsive trait, Respiratory distress, Dysphagia OMIM:160900
Craniosynostosis 2
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Metopic synostosi... OMIM:604757
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Dubowitz Syndrome
Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster... ORPHA:235
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Wide anterior fontanel,... OMIM:614886
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficulties in infancy, Hyp... ORPHA:193
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Vomiting, Pleural effusion ORPHA:93552
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Conductive hearing impairment... ORPHA:861
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Hip dislocati... OMIM:183900
Odontochondrodysplasia 1
Delayed eruption of teeth, Death in infancy, Respiratory distress, Genu recurvatum, Flat acetabul... OMIM:184260
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Restlessness, Shuffling gait OMIM:300266
Necrotizing Enterocolitis
Apnea, Abdominal distention, Diarrhea, Bloody diarrhea, Vomiting ORPHA:391673
Achondrogenesis, Type Ii
Protuberant abdomen, Stillbirth, Cleft palate, Long philtrum OMIM:200610
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Sinusitis, Cutis marmorata, Malabsorption, Abdominal... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 53
Abdominal distention, Death in infancy, Death in childhood OMIM:619423
Gallbladder Neuroendocrine Tumor
Anorexia, Abdominal distention, Episodic abdominal pain, Intermittent jaundice, Nausea ORPHA:100086
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit... ORPHA:2753
Celiac Disease, Susceptibility To, 1
Ataxia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphth... OMIM:212750
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Ovarian Fibrothecoma
Abdominal distention, Pleural effusion, Abdominal pain ORPHA:314478
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Narrow mouth, Vomiting, Death in childhood, Long philtrum OMIM:619147
Cardiofaciocutaneous Syndrome 1
Micrognathia, Feeding difficulties in infancy, Deep philtrum, Vomiting, Gastroesophageal reflux, ... OMIM:115150
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Hyperactivity, Crowded maxillary incisors ORPHA:397973
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Papilledema, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hea... ORPHA:217085
Buratti-Harel Syndrome
Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi... OMIM:619314
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Malar flatte... OMIM:241310
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Protruding ear... ORPHA:1131
Pulmonary Capillary Hemangiomatosis
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... ORPHA:199241
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Carious teeth, Downturned corners of mo... ORPHA:1110
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in ... ORPHA:177907
Kufor-Rakeb Syndrome
Ataxia, Akinesia, Aggressive behavior, Gait disturbance, Dysphagia OMIM:606693
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Broad-based gait, Ataxia, Reye syndrome-like episode... OMIM:256810
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Conduc... ORPHA:1071
Marshall-Smith Syndrome
Irregular dentition, Apnea, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, As... OMIM:602535
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Cleft palate ORPHA:85166
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Vomiting, Nausea, Abdominal pain ORPHA:90003
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Papilledema, Abnormal dental morphology, Camptodactyly of finger, Sensorineural hea... ORPHA:217093
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Feeding difficulties, Hypodontia, Gastrostomy tube feeding in... ORPHA:544503
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Constipation, Vomiting, Chronic hepatic... ORPHA:469
Lymphatic Malformation 7
Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax OMIM:617300
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Death in infancy, Flexion contracture, Stillbirth, High palate... ORPHA:85212
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilion, Posteriorl... OMIM:608670
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... ORPHA:199302
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Wormian bones, Abnormal dental ename... ORPHA:1452
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Malabsorption, Feeding difficulties in infancy, Abdominal ... ORPHA:3260
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Cleft palate, Hypop... ORPHA:83
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Anteverted ears, Downturned corners of mouth, Gastro... OMIM:616268
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Alobar holop... OMIM:301043
Pfeiffer Syndrome Type 2
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H... ORPHA:93259
Diaphanospondylodysostosis
Respiratory distress, Micrognathia, Respiratory insufficiency, Cleft palate, Protuberant abdomen,... OMIM:608022
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Hepatic failure OMIM:261680
Classic Progressive Supranuclear Palsy Syndrome
Impulsivity, Akinesia, Neuromuscular dysphagia, Falls, Gait imbalance ORPHA:240071
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Micrognathia, Multiple joint dislocation, High palate, Microdontia, Repeate... ORPHA:536467
Rapp-Hodgkin Syndrome
Conical tooth, Anhidrotic ectodermal dysplasia, Hypoplasia of the maxilla, Carious teeth, Cleft u... OMIM:129400
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Delayed eruption of primary teeth,... ORPHA:763
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Carious teeth, Xero... ORPHA:1051
Tricuspid Atresia
Cyanosis ORPHA:1209
Ethylene Glycol Poisoning
Cyanosis, Ataxia, Gastritis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory dis... ORPHA:31826
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Akinesia OMIM:607598
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Respiratory distress, Tented upper lip vermilion, Dental crowding... OMIM:620369
Buerger Disease
Acrocyanosis ORPHA:36258
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Apnea, Micrognathia, Patellar hypoplasia, High palate,... OMIM:114290
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Anorexia, Abdominal distention, Jaundice, Episodic abdominal pain ORPHA:370348
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Sensorineural hearing impa... ORPHA:560
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Optic atrophy, Cleft palate, Low-set ears, Hearing impairment OMIM:614261
Stt3B-Cdg
Respiratory distress, Feeding difficulties ORPHA:370924
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Protruding ear, Low-set ears, Neonat... ORPHA:85284
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Sensorineural ... ORPHA:79330
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Neon... ORPHA:79345
Walker-Warburg Syndrome
Skeletal muscle atrophy, Posteriorly rotated ears, Submucous cleft hard palate, Optic atrophy, Cl... ORPHA:899
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Dravet Syndrome
Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode, Impulsivity ORPHA:33069
Parkinson Disease 17
Akinesia OMIM:614203
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Hepatic failure OMIM:617156
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption ORPHA:71
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis,... ORPHA:2462
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Ataxia, Abnormal eating behav... ORPHA:209905
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Feeding diffi... ORPHA:50
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Low-set ears OMIM:614870
Criss-Cross Heart
Cyanosis, Respiratory insufficiency, Feeding difficulties ORPHA:1461
Tularemia
Respiratory distress, Pneumonia, Oral ulcer, Otitis media, Cough, Pleural effusion ORPHA:3392
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Prominent superficial veins, Pyloric stenosis,... ORPHA:363705
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Respira... OMIM:245650
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Gingival overgrowth, Evert... OMIM:614753
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Meier-Gorlin Syndrome 3
Microretrognathia, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Aplasia/Hyp... OMIM:613803
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, M... OMIM:300990
Kasabach-Merritt Syndrome
Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Petechiae, Purpura ORPHA:2330
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, Ciliary dyskinesia... OMIM:606763
Keipert Syndrome
Hypoplasia of the maxilla, Sensorineural hearing impairment, Tented upper lip vermilion, Exaggera... ORPHA:2662
Sweeney-Cox Syndrome
Prominent metopic ridge, Uplifted earlobe, Micrognathia, Wide anterior fontanel, Velopharyngeal i... OMIM:617746
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... ORPHA:2751
Diamond-Blackfan Anemia 10
Respiratory distress, Posteriorly rotated ears, Micrognathia, Cleft palate, Microtia, Atresia of ... OMIM:613309
Neu-Laxova Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormality of th... ORPHA:2671
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding di... ORPHA:1329
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Dental crowding, Micrognathia, Centrally nucleated skeletal mu... OMIM:620351
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progressive gait ataxia, Tip-... ORPHA:309256
Donohue Syndrome
Wide mouth, Abdominal distention, Thick lower lip vermilion, Gingival overgrowth OMIM:246200
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Dental crowding, Progeroid facial appearance, Liv... OMIM:620370
Cleidocranial Dysplasia 2
Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel, Supernumera... OMIM:620099
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft... ORPHA:3253
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Aggressive behavior OMIM:300894
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Apnea, Dental crowding, Micrognathia, Deep philtrum, Multiple joint disloc... OMIM:619503
Aicardi-Goutieres Syndrome 1
Feeding difficulties in infancy, Inability to walk, Erythema, Multiple gastric polyps, Prolonged ... OMIM:225750
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Toluene Embryopathy
Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic bone, Low-set ea... ORPHA:1920
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Micrognathia, Feeding difficulties in infancy, Hypoplasia ... OMIM:180849
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Malar prominence, Optic atrophy, Choreoathetosis, Large earlobe, Wide mout... ORPHA:2715
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen, Cleft palate OMIM:184250
Adnp Syndrome
Respiratory distress, Thin upper lip vermilion, Oral-pharyngeal dysphagia, Aggressive behavior, T... ORPHA:404448
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the... OMIM:257850
Pachyonychia Congenita
Respiratory distress, Natal tooth, Angular cheilitis, Ear pain, Feeding difficulties, Advanced er... ORPHA:2309
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo... ORPHA:348
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Death in infancy, Macrodontia, Hypoplasia of the premaxilla, T... ORPHA:1106
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea ORPHA:64739
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Micrognathia, Feeding difficulties, Hypoxemia, Microtia, Submucous cleft soft ... ORPHA:2282
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Hypoplasia of the maxilla... ORPHA:228396
Atelosteogenesis, Type Iii
Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Flat acetabular roof, Cleft palate, K... OMIM:108721
Afibrinogenemia, Congenital
Death in infancy, Epistaxis, Hematemesis, Death in adolescence, Gingival bleeding, Death in child... OMIM:202400
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Microtia, Abnormal parotid gland morph... OMIM:154500
Desmosterolosis
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Hydrocephalus, Submucous... ORPHA:35107
Achondroplasia
Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction, Feeding difficul... OMIM:100800
W Syndrome
Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodact... ORPHA:2804
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Feeding difficulties in infancy, Hydrocephalus, Cleft palate, ... ORPHA:1812
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Short philtrum, E... OMIM:601499
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Gait disturbance, Protuberant abdomen OMIM:613330
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck OMIM:615595
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Holoprosencephaly 9
Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Thyroid Ectopia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95712
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Neuropathic arthropathy, Decreased number of large peripheral myelinated... OMIM:223900
Inhalational Anthrax
Respiratory distress, Dyspnea, Vomiting ORPHA:247257
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Death in infancy, Cyanosis, Ataxia, Apnea, Optic neuropathy, Feeding difficult... OMIM:252010
Martsolf Syndrome 1
Posteriorly rotated ears, Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxill... OMIM:212720
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxi... ORPHA:391474
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Jaundi... ORPHA:275761
Hereditary Spherocytosis
Abdominal distention, Jaundice, Ataxia, Abdominal pain ORPHA:822
Rodrigues Blindness
Ectodermal dysplasia, Tooth malposition, Nasal flaring OMIM:268320
Lissencephaly 7 With Cerebellar Hypoplasia
Death in infancy, Micrognathia, Downturned corners of mouth, Neonatal death, Arthrogryposis multi... OMIM:616342
Isolated Atp Synthase Deficiency
Respiratory distress, Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:254913
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Cleft soft palate, Micrognathia, Accessory oral frenulum, Long philtrum, Metat... ORPHA:2756
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Diastasis recti, Congenital diaphra... ORPHA:116
Schneckenbecken Dysplasia
Protuberant abdomen, Stillbirth, Cleft palate OMIM:269250
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Craniosynostosis, ... ORPHA:3342
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Posteriorly rotated ears, Submucous cleft hard palate, Dow... OMIM:619680
Chitayat Syndrome
Respiratory distress, Thick vermilion border, Tracheomalacia OMIM:617180
Schimke Immuno-Osseous Dysplasia
Abdominal distention, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodonti... ORPHA:1830
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding diffic... ORPHA:989
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Chronic constipation, Agitation, Shuffling gait, Dysphagia ORPHA:411602
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... OMIM:619227
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Esophageal varix, Respiratory insufficiency, Decreased liver function, Hepa... ORPHA:367
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Hip contracture, Thin upper lip vermilion, Posteriorly rotated ears, Prominent ... OMIM:619194
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Respiratory distress, Ma... ORPHA:537
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... ORPHA:958
X-Linked Acrogigantism
Diastema, Abdominal distention, Ataxia, Polyphagia ORPHA:300373
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Abnormality of the gastrointestinal tract, Feeding difficultie... ORPHA:1340
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Microretrognathia, Abnormality of the dentition, Feeding diffi... ORPHA:1786
Radio-Renal Syndrome
Respiratory distress, Micrognathia, Dyspnea, High, narrow palate, Abnormality of the elbow, Downt... ORPHA:3015
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Hypoplasia of the maxill... OMIM:170390
Raine Syndrome
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Death in infancy, Posteriorly rotat... OMIM:259775
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Abdominal distention, Alveolar ridge overgrowth, High palate, Protein-l... ORPHA:1655
Thanatophoric Dysplasia, Type I
Neonatal death, Neonatal respiratory distress, Protuberant abdomen OMIM:187600
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Posteriorly rotated ears, Abnormality of the dentition, Hip dislocation, Cl... OMIM:300968
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... ORPHA:2588
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Hearing impairment, Tracheomalacia, Acrocyan... ORPHA:896
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia OMIM:227270
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Abnormal dental enamel... ORPHA:439822
Cleidocranial Dysplasia 1
Respiratory distress, Persistent open anterior fontanelle, Neonatal respiratory distress, Delayed... OMIM:119600
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Anotia, Microtia, Acetabular... OMIM:616462
Tarp Syndrome
Posteriorly rotated ears, Micrognathia, Optic atrophy, Cleft palate, Tongue nodules, Prominent an... OMIM:311900
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Hepatic failure ORPHA:159
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Flat acetabular roof, Stillbirth, Protuberant abdomen, Low-set ears OMIM:151210
Mgat2-Cdg
Low-set, posteriorly rotated ears, Respiratory distress, Posteriorly rotated ears, Gastroparesis,... ORPHA:79329
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Protuberant abdomen OMIM:618272
Cholesteryl Ester Storage Disease
Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome... OMIM:278000
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing im... ORPHA:466943
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Familial Visceral Myopathy
Abdominal distention, Aganglionic megacolon, Cleft palate ORPHA:2604
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Hypoplasia of the max... OMIM:213980
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
Aarskog-Scott Syndrome
Cleft upper lip, Hypoplasia of the maxilla, Cleft palate, Curved linear dimple below the lower li... OMIM:305400
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Stillbirth, Low-set ears, Neonatal death, Arthrogryposis multiplex congenita OMIM:236500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Ataxia, Cleft soft palate, Aggressive behavior, Nasogastric tube feeding in inf... ORPHA:268261
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Celiac disease, Sensorin... ORPHA:293987
Van Den Ende-Gupta Syndrome
Posteriorly rotated ears, Dental crowding, Craniosynostosis, Micrognathia, Hypoplasia of the maxi... OMIM:600920
Pfeiffer Syndrome Type 3
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Cleft palate, High palate, Low... ORPHA:93260
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Feeding difficulties, A... ORPHA:26793
Carnitine Deficiency, Systemic Primary
Respiratory distress, Diarrhea, Vomiting OMIM:212140
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Sensory axonal neuropathy, Low-set ears OMIM:610127
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Mixed hearing impairment, Craniosynostosis, Abnormality ... ORPHA:1299
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo... ORPHA:740
Epidermolysis Bullosa Simplex With Pyloric Atresia
Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Skin fragility with non-... ORPHA:158684
Mucopolysaccharidosis Type 3
Otitis media, Aspiration pneumonia, Thickened helices, Loss of ambulation, Conductive hearing imp... ORPHA:581
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Mixed hearing impairmen... OMIM:614557
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia, Micrognathia, Flexion contracture, Submucous cleft hard palate, High palate OMIM:222765
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Short p... OMIM:619142
Fibrochondrogenesis 1
Abnormal pinna morphology, Wide anterior fontanel, Narrow mouth, Cleft palate, Widely patent coro... OMIM:228520
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Micrognathia, Trismus, Recurrent pneumonia, Feeding difficulties, C... OMIM:616271
Schimke Immunoosseous Dysplasia
Waddling gait, Dyspnea, Protuberant abdomen, Microdontia, Pulmonary arterial hypertension OMIM:242900
Pfeiffer Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Hydrocephalus, Humeroradial sy... OMIM:101600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Conductive... ORPHA:306542
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Gastro... OMIM:619472
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Abnormal dental enamel morphology, Abnormality of the dentit... ORPHA:1798
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Extra concha fold, Micrognathia, Hypoplasia of ... OMIM:209885
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Feeding difficulties in... ORPHA:308552
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Diarrhea, ... ORPHA:319213
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Flexion contracture, Cleft pa... OMIM:619124
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Prematurely aged appearance, Facial palsy, Abnormal dental enamel morpholo... ORPHA:2658
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Pulmonary embolism, Hydrocephalus, Jaundice, Optic atrophy, Feeding... ORPHA:79282
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
3Mc Syndrome 2
Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Hip disl... OMIM:265050
Dyssegmental Dysplasia, Silverman-Handmaker Type
Posteriorly rotated ears, Micrognathia, Narrow mouth, Neonatal death, Malar flattening, Pterygium OMIM:224410
Chromosome 1P36 Deletion Syndrome, Distal
Feeding difficulties in infancy, Orofacial cleft, Gastroesophageal reflux, High palate, Thickened... OMIM:607872
Smith-Lemli-Opitz Syndrome
Dental crowding, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Self-mutilation... OMIM:270400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... ORPHA:95455
Marden-Walker Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Posteriorly rotat... ORPHA:2461
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia OMIM:601809
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal pinna morphology, Hypoxemia, Hypoplasia of the zygomatic bone, Holoprosencephaly, Low-se... ORPHA:556955
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Abnormal pinna morphology, Sensorineural hearing ... OMIM:607143
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, Micrognathia, Feeding difficulties in infancy, Carious ... OMIM:223370
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing... ORPHA:141127
Japanese Encephalitis
Decreased motor nerve conduction velocity, Respiratory distress, Genu recurvatum, Facial palsy, A... ORPHA:79139
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Hydrocephalus, Microtia, Constip... OMIM:613603
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Craniosynostosis, Abnormality of the dentitio... OMIM:608156
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Low-set ears OMIM:167730
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... ORPHA:555874
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Protuberant abdomen, Difficulty walking, Enamel hypoplasia OMIM:277440
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Feeding difficulties in infancy, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Protrud... ORPHA:500150
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate OMIM:271225
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, High palate OMIM:619272
Kagami-Ogata Syndrome
Micrognathia, Hypoplasia of the maxilla, Microtia, Long philtrum, Pulmonary arterial hypertension... OMIM:608149
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Low-set ears, Long philtrum OMIM:617895
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone, High palate, Short philtrum, Open mouth,... ORPHA:710
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Inability t... ORPHA:365
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... OMIM:305100
Doors Syndrome
Respiratory distress, Short lingual frenulum, Downturned corners of mouth, Gastroesophageal reflu... ORPHA:79500
Igg4-Related Ophthalmic Disease
Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormali... ORPHA:449563
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Ena... ORPHA:79403
Cleft Soft Palate
Cleft soft palate OMIM:119570
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... OMIM:211380
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Vomiting, Cough, Pleural ef... ORPHA:1546
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea ORPHA:860
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, H... ORPHA:782
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Jaundice, Gastrointestinal inflammation, Dermatographic urt... ORPHA:186
Biotinidase Deficiency
Respiratory distress, Ataxia, Apnea, Optic neuropathy, Hyperventilation, Myelopathy, Sensorineura... ORPHA:79241
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Oral mucosal blisters, Congenital pyloric atresia, Microtia, Neonatal death OMIM:619817
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Lobar holoprosencephaly, Lon... OMIM:618500
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Short lingual frenulum, Feeding difficulties, Widely spaced teeth,... OMIM:619479
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Inability to walk, Recurrent pneumonia, Optic atrophy, Macroglossia, Thick ... OMIM:617303
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Humeroradial synostosis, Cleft palate, Low-set ears, Narrow mouth... OMIM:251230
Kniest Dysplasia
Arthropathy, Enlarged joints, Abnormal joint morphology, Pierre-Robin sequence, Cleft palate, Fus... ORPHA:485
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Respiratory insuffici... OMIM:269860
Prolidase Deficiency
Micrognathia, Carious teeth, Genu valgum, Hypoplasia of the zygomatic bone, Abnormality of the mi... ORPHA:742
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties OMIM:619239
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Oligodontia, Conductive hearing impairme... ORPHA:2095
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Narrow mouth, ... OMIM:617666
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Micrognathi... OMIM:617925
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Feeding difficulties in infancy, Phonic tics, Choreoathetosis, G... OMIM:234200
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Thin vermilion border OMIM:602557
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Diastasis recti, Micrognathia, Sensorineural hearing impairment, Su... OMIM:618971
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Protuberant abdomen, Enamel hypoplasia, Difficulty walking OMIM:264700
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Agenesis of corpus callosum, A... ORPHA:2750
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Thick vermilion border, Cleft palate ORPHA:250999
Zttk Syndrome
Craniosynostosis, Abnormality of the dentition, Feeding difficulties in infancy, Dysplastic corpu... OMIM:617140
Kallmann Syndrome-Heart Disease Syndrome
Midgut malrotation, Cyanosis, Short lingual frenulum, Cleft palate ORPHA:2326
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Micrognathia, Neonatal death, Arthrogrypo... OMIM:253310
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Feeding difficulties, Macroglossia, Pleural effusion OMIM:261740
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cleft palate, Vomiting, Cough, Agenesis of cor... ORPHA:137675
Osteogenesis Imperfecta, Type X
Respiratory distress, Micrognathia, Pyloric stenosis, Recurrent pneumonia, Genu valgum, Death in ... OMIM:613848
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Hydrocephalus, Optic... OMIM:101800
Stickler Syndrome
Joint dislocation, Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Oste... ORPHA:828
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... ORPHA:99106
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mout... ORPHA:950
Glutamine Deficiency, Congenital
Flexion contracture, Thin vermilion border, Low-set ears, Camptodactyly, Neonatal death OMIM:610015
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... ORPHA:37553
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Abdominal distention, Poor appetite, Malabsorption OMIM:227810
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:158350
Neu-Laxova Syndrome 2
Protuberant abdomen, High palate, Cleft palate OMIM:616038
Myasthenia Gravis
Dyspnea, Rheumatoid arthritis, Dysphagia, Acrocyanosis, Hearing impairment ORPHA:589
8Q24.3 Microdeletion Syndrome
Respiratory distress, Congenital hip dislocation, Feeding difficulties in infancy, Nasogastric tu... ORPHA:508488
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Apnea, Gastrointestinal dysmotility, Anorectal anomaly, Osteoarthritis, Abnorm... ORPHA:285
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Submucous cleft hard palate, Bifid uvula, Incomplete partition ... OMIM:617660
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Upper airway obstruction ORPHA:93352
Branchiooculofacial Syndrome
Micrognathia, Conductive hearing impairment, Hypoplastic superior helix, Facial palsy, Cleft uppe... OMIM:113620
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Abdominal pain, Diarrhea, Peritonitis, Tachypnea, Sep... ORPHA:36234
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Prominent superficial veins, Flexion contracture of finger, Prematurel... OMIM:601812
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Hypodontia, Submucous cleft soft pala... ORPHA:69085
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Interphalangeal joint contractu... OMIM:259600
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Progressive gait ataxia, Bowel incontinence, Difficulty walking ORPHA:309271
Cocaine Intoxication
Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ... ORPHA:90068
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, Gastroesophageal reflux, High palate, Abnormal repetitive mannerism... OMIM:619325
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Progressive gait ataxia ORPHA:309263
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Apnea, Segmental peripheral demyelination/remyelination, Dyspnea, Sensorineural hearing i... ORPHA:255210
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Elevated... OMIM:619351
Charge Syndrome
Aqueductal stenosis, Feeding difficulties in infancy, Hypoplasia of the semicircular canal, Gastr... ORPHA:138
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Median cleft lip and palate, Hypoplasia of the premaxil... OMIM:610828
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Infantile sensorineural hearing impairment, G... ORPHA:268943
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Holoprosencephaly
Feeding difficulties in infancy, Deep philtrum, Gastroesophageal reflux, Holoprosencephaly, Encep... ORPHA:2162
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Camptodactyly of finger, ... OMIM:166250
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Floating-Harbor Syndrome
Enlarged joints, Hypoplasia of the maxilla, Oligodontia, Gastroesophageal reflux, Short philtrum,... ORPHA:2044
Farber Disease
Respiratory distress, Abnormality of the knee, Chronic diarrhea, Abnormality of the elbow, Respir... ORPHA:333
Dyggve-Melchior-Clausen Disease
Hyperactivity, Respiratory insufficiency due to muscle weakness, Inability to walk, Protuberant a... ORPHA:239
Acquired Purpura Fulminans
Hepatic failure, Acrocyanosis, Macular purpura ORPHA:49566
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Abnormality of the ear, Pierre-Robin s... OMIM:192430
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Stridor, Macroglossia, Constipation OMIM:218700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... ORPHA:96334
Atelosteogenesis, Type I
Encephalocele, Micrognathia, Elbow dislocation, Cleft palate, Knee dislocation, Fused cervical ve... OMIM:108720
Wilson Disease
Acute hepatic failure, Abdominal distention, Jaundice, Esophageal varix, Vomiting, Dysphagia, Hep... OMIM:277900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait... ORPHA:17
Restrictive Dermopathy 1
Natal tooth, Limb joint contracture, Micrognathia, Wide anterior fontanel, Submucous cleft hard p... OMIM:275210
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Cupped ear, Low-set ears ORPHA:2399
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone, Long philtrum ORPHA:3074
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Hydrocephalus, Er... ORPHA:2556
Atelosteogenesis Type Ii
Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Protuberant abdomen, Long philtru... ORPHA:56304
Geroderma Osteodysplasticum
Mandibular prognathia, Progeroid facial appearance, Hypoplasia of the maxilla, Neonatal wrinkled ... OMIM:231070
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Fanconi-Bickel Syndrome
Abdominal distention, Hepatic failure ORPHA:2088
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Wide cranial sutures, Feeding difficulties, Ga... OMIM:618188
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... ORPHA:340
Double Outlet Left Ventricle
Cyanosis, Tachypnea, Orofacial cleft ORPHA:3427
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea ORPHA:309031
Moderate Hemophilia A
Gastrointestinal hemorrhage, Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Spon... ORPHA:169805
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Spina bifida, Hiatus hernia, Cleft upper lip, Part... OMIM:304050
Currarino Syndrome
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... OMIM:176450
Distal Deletion 19P
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... ORPHA:96129
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Abnormality of the dentition, Feeding diffi... ORPHA:3206
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrhea, Urticaria, ... ORPHA:37042
Diamond-Blackfan Anemia
Cleft soft palate, Micrognathia, Cleft lip, Microtia, High palate, Low-set ears, Adenocarcinoma o... ORPHA:124
Listeriosis
Respiratory distress, Miscarriage, Ataxia, Pneumonia, Abdominal pain, Diarrhea, Peritonitis, Jaun... ORPHA:533
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Dysmetria, Athetosis, Low-set ears... OMIM:615273
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Ollier Disease
Multiple enchondromatosis, Abnormal cartilage morphology ORPHA:296
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Rectal atresia, Small thenar eminence, Neonatal death, Anal atresia OMIM:613390
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Vomiting OMIM:251000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ataxia, Dental crowding, Impulsivity, Aggressive behavior, Dysplastic corpus callosum, High, narr... OMIM:300967
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Classical Ehlers-Danlos Syndrome
Abnormality of the temporomandibular joint, Rectal prolapse, Osteoarthritis, Shoulder dislocation... ORPHA:287
Mucopolysaccharidosis, Type Vii
Gingival overgrowth, Macroglossia, Widely spaced teeth, Protuberant abdomen, Airway obstruction OMIM:253220
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Inability to walk, Hydrocephalus, Optic atrophy, Stridor, Macroglossia, Thi... ORPHA:505248
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Inability to walk, Gingival overgrowth, Strid... ORPHA:576
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Optic atrophy, Head-banging, Feeding di... ORPHA:86309
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Thick vermilion bo... OMIM:609460
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Protuberant abdomen, Enamel hypoplasia, Difficulty walking ORPHA:289157
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... ORPHA:238468
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abdominal distention, Abnormal tongue... ORPHA:653
Hardikar Syndrome
Intestinal malrotation, Cleft soft palate, Abdominal pain, Celiac disease, Hematemesis, Vertigo, ... OMIM:301068
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Myopathy, Stillbirth, Tongue fasciculations, Death in childhood, Neonatal death... OMIM:614922
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Posteriorly rotated ears, Gastroparesis, Tarsal synostosis, Congenital sensori... OMIM:157800
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Limited wrist movemen... ORPHA:93284
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Ataxia, Hypoplasia of the maxi... OMIM:139210
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia ORPHA:48818
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Long philtrum ORPHA:50810
Achondrogenesis, Type Ia
Stillbirth, Protuberant abdomen, Protruding tongue OMIM:200600
Wiedemann-Rautenstrauch Syndrome
Abnormality of the ear, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Age... ORPHA:3455
Cutis Laxa, Autosomal Recessive, Type Iic
Reduced subcutaneous adipose tissue, Mandibular prognathia, Prominent superficial veins, Dental c... OMIM:617402
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Congenital hip dislocation, Block vertebrae, Aqueductal stenosis,... OMIM:306955
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea... ORPHA:79404
Familial Dysautonomia
Orthostatic hypotension, Ataxia, Feeding difficulties in infancy, Optic atrophy, Gastroesophageal... ORPHA:1764
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Micrognathia, Feeding difficulties in infancy, Hy... OMIM:261540
Dyskeratosis Congenita
Esophageal stenosis, Telangiectasia of the skin, Malabsorption, Hypoplasia of the maxilla, Cariou... ORPHA:1775
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Abn... ORPHA:3047
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... ORPHA:980
Hurler Syndrome
Gingival overgrowth, Macroglossia, Thick vermilion border, Protuberant abdomen, Microdontia OMIM:607014
Plague
Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Unsteady gait... ORPHA:707
Methylmalonic Aciduria, Cblb Type
Feeding difficulties in infancy, Vomiting, Respiratory distress OMIM:251110
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Carious teeth, Diarrhea, Oral ulcer, Gingivitis, Enterocolitis, Ulcerative colitis, In... ORPHA:79259
Cranioectodermal Dysplasia 1
High, narrow palate, Ectodermal dysplasia, High palate, Widely spaced teeth, Everted lower lip ve... OMIM:218330
Mucolipidosis Ii Alpha/Beta
Recurrent pneumonia, Gingival overgrowth, Wide mouth, Macroglossia, Death in childhood, Tip-toe g... OMIM:252500
Opsismodysplasia
Respiratory insufficiency, Protuberant abdomen, Long philtrum OMIM:258480
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca... OMIM:129900
Coffin-Lowry Syndrome
Mandibular prognathia, Cutis marmorata, Delayed closure of the anterior fontanelle, Sensorineural... OMIM:303600
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh... ORPHA:97214
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Gastrointestinal dys... ORPHA:2152
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Micrognathia, Pyloric stenosis, Contracture of the distal interphalangeal j... ORPHA:83617
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Low-set ears OMIM:617478
Hajdu-Cheney Syndrome
Intestinal malrotation, Micrognathia, Absent frontal sinuses, Open bite, Abnormality of the denti... ORPHA:955
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Hypoplasia of the abdominal wall muscul... OMIM:612289
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Narrow mouth, Peripheral axonal neuropathy, Micrognathia OMIM:618810
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia, Dysphagia OMIM:609454
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Genu valgum ORPHA:1295
Aortic Arch Interruption
Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Exertional dyspnea ORPHA:2299
Adult-Onset Still Disease
Abdominal pain, Cartilage destruction, Erythema, Joint swelling, Arthritis, Restrictive ventilato... ORPHA:829
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Costal cartilage calcification, Stillbirth, Protuberant ... OMIM:215140
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... ORPHA:31204
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... ORPHA:2673
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Bloody diarrhea, Rectal abs... ORPHA:436252
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Elbow flexion contracture, Narrow palate, High palate, Protuberant abd... OMIM:608328
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... ORPHA:210122
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Posteriorly rotated ears, Asymmetry of the ears, Persistence of primar... OMIM:300166
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Flexion contracture, Optic atr... OMIM:619321
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition ORPHA:349
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Excessive wrinkled skin, Microtia... ORPHA:920
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Stomatitis, Fused cervical vertebrae, Joint swelling, Respiratory distress OMIM:612852
Pallister-Hall Syndrome
Natal tooth, Posteriorly rotated ears, Cleft upper lip, Radial head subluxation, Hip dislocation,... OMIM:146510
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Abno... ORPHA:261537
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Waddling gait, Respiratory distress, Enlargement of the ankles, Nasogastric tube feeding in infan... ORPHA:99646
Q Fever
Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura ORPHA:781
Multiple Osteochondromas
Abnormality of the knee, Intestinal obstruction, Peripheral nerve compression, Abnormal cartilage... ORPHA:321
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hepatic failure ORPHA:292
Colchicine Poisoning
Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea ORPHA:31824
Isolated Arrhinia
Respiratory distress, Microtia, Hypoplasia of the nasal bone, Absent nasal septal cartilage ORPHA:1134
Isolated Congenital Alacrima
Achalasia ORPHA:91416
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Pancreatic endocrine tumor... ORPHA:805
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Intestinal malrotation, Hypoplasia of the prema... ORPHA:2166
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Feeding difficulties in infancy, Submucous cleft hard palate, Ankle clonus, Dys... OMIM:618891
Holoprosencephaly 2
Median cleft lip and palate, Aplasia of the premaxilla, Alobar holoprosencephaly, Submucous cleft... OMIM:157170
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thin vermilion border, Optic atrophy, Hypoplasia of the zygomatic bone, Long philtrum OMIM:614800
Saethre-Chotzen Syndrome
Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, R... OMIM:101400
Methylmalonic Aciduria, Cbla Type
Feeding difficulties in infancy, Vomiting, Respiratory distress OMIM:251100
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Agen... ORPHA:261552
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... OMIM:617088
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Microretrognathia, Death in childhood, Low-set ears, Long philtrum, Neonatal death OMIM:614052
Bartsocas-Papas Syndrome 1
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cupped ear, Cleft palate... OMIM:263650
Primrose Syndrome
Hypoplasia of the maxilla, Knee flexion contracture, Downturned corners of mouth, Tics, High pala... OMIM:259050
Leprosy
Epistaxis, Abnormality of the seventh cranial nerve, Abnormal facial skeleton morphology, Steppag... ORPHA:548
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia, Dysphagia OMIM:601104
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of ... OMIM:604292
Phosphoribosylaminoimidazole Carboxylase Deficiency
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Low-set ears OMIM:619859
Poems Syndrome
Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu... ORPHA:2905
Primary Hyperoxaluria
Optic disc pallor, Cutis marmorata, Abnormality of the dentition, Optic atrophy, Rootless teeth, ... ORPHA:416
African Trypanosomiasis
Papilledema, Miscarriage, Akinesia, Aggressive behavior, Myelopathy, Diarrhea, Jaundice, Choreoat... ORPHA:3385
Liver Disease, Severe Congenital
Chronic gastritis, Pneumonia, Abdominal distention, Jaundice, Malnutrition, Dependency on parente... OMIM:619991
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, A... ORPHA:1101
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Anal atresia OMIM:271520
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set, posteriorly rotated ears, Respiratory distress, Thin upper lip vermilion, Congenital hip... ORPHA:480880
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Neuroocular Syndrome
Scapular winging, Genu recurvatum, Unilateral deafness, Short uvula, Submucous cleft hard palate,... OMIM:619539
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Abnormality of the periph... ORPHA:48435
Gitelman Syndrome
Nausea and vomiting, Respiratory distress, Salt craving, Abdominal pain, Vertigo, Diarrhea, Gout,... ORPHA:358
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Williams Syndrome
Micrognathia, Rectal prolapse, Dysmetria, Protruding ear, Gastroesophageal reflux, Compulsive beh... ORPHA:904
Leptospirosis
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Jaundice, Diarrhea, Cough, P... ORPHA:509
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment OMIM:122880
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submuco... OMIM:235730
Alkaptonuria
Joint dislocation, Cartilage destruction, Hearing abnormality, Osteoarthritis, Arthritis, Joint s... ORPHA:56
Coccidioidomycosis
Respiratory distress, Pneumonia, Hydrocephalus, Peritonitis, Arthritis, Pleural empyema, Cough, E... ORPHA:228123
Leprechaunism
Reduced subcutaneous adipose tissue, Abdominal distention, Rectal prolapse, Megarectum, Thick ver... ORPHA:508
Proteasome-Associated Autoinflammatory Syndrome 1
Progeroid facial appearance, Thick lower lip vermilion, Erythema, Death in adolescence, Premature... OMIM:256040
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Posteriorly rotated ears, Micrognathia, Dyspnea, Submucous cleft hard palate, Cleft palate, Abnor... ORPHA:2636
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Abnormal pinna morphology, Micrognathia, High palate, Low-set ears,... OMIM:614437
Blomstrand Lethal Chondrodysplasia
Natal tooth, Long philtrum, Protuberant abdomen, Protruding tongue ORPHA:50945
Glycogen Storage Disease Ib
Inflammation of the large intestine, Oral ulcer, Protuberant abdomen OMIM:232220
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... OMIM:233450
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax OMIM:620306
Ulbright-Hodes Syndrome
Respiratory distress, Abnormal pinna morphology, Micrognathia, Humeroradial synostosis, Pneumotho... ORPHA:3404
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Low-set ears, Neonatal death, Diaphragmatic eventr... OMIM:601186
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Narrow mouth, Su... ORPHA:1662
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cleft upper lip, Esophageal atresia, Abdominal distention, Respiratory insufficiency, Ectopic anu... ORPHA:93271
Pyknoachondrogenesis
Abdominal distention, Abnormality of mouth shape ORPHA:3003
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impa... OMIM:164210
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death, Natal tooth OMIM:609638
Mednik Syndrome
Death in infancy, Jejunal atresia, Sensorineural hearing impairment, Death in childhood, Neonatal... OMIM:609313
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation OMIM:616749
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Steatorrhea OMIM:260400
Dermatomyositis
Telangiectasia of the skin, Gastrointestinal stroma tumor, Feeding difficulties in infancy, Eryth... ORPHA:221
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hearing impairment OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Hearing impairment OMIM:618839
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen OMIM:232200
Singleton-Merten Syndrome 1
Waddling gait, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Hip dislocatio... OMIM:182250
Biliary, Renal, Neurologic, And Skeletal Syndrome
Abdominal distention, Jaundice, Asthma, Esophageal varix, Everted lower lip vermilion, Gastroesop... OMIM:619534
Ablepharon-Macrostomia Syndrome
Microtia, third degree, Microtia, first degree, Anteriorly placed anus, Short upper lip, Wide mou... OMIM:200110
Neu-Laxova Syndrome 1
Micrognathia, Swollen lip, Cleft upper lip, Macrotia, Thick lower lip vermilion, Cleft palate, St... OMIM:256520
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow mouth... OMIM:614748
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Diastasis recti, Micrognathia, Esophageal atresia, C... OMIM:265380
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Tooth malposition, Narrow palate OMIM:277600
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla ORPHA:3044
Reactive Arthritis
Abdominal pain, Cartilage destruction, Diarrhea, Respiratory insufficiency, Arthritis, Inflammati... ORPHA:29207
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormal cartilage matrix, Partial agenesis of the corpus callosum, Diffuse axonal swelling ORPHA:86822
Atresia Of Urethra
Abdominal distention ORPHA:105
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Aicardi-Goutières Syndrome
Cutis marmorata, Arthritis, Prolonged neonatal jaundice, Difficulty walking, Low-set ears, Acrocy... ORPHA:51
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Pulmonary arterial hypertension, Osteoc... ORPHA:2396
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Wide anterior fontanel, Neonatal death, Congenital diaphragm... OMIM:194080
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis, Optic atrophy, Optic neuropathy OMIM:259900
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Protuberant abdomen OMIM:618019
Pmm2-Cdg
Mandibular prognathia, Respiratory distress, Thin upper lip vermilion, Abnormal pinna morphology,... ORPHA:79318
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... OMIM:180500
Alström Syndrome
Respiratory distress, Abnormality of dental color, Gingivitis, Gastroesophageal reflux, Otitis me... ORPHA:64
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Intermittent diarrhea, Intestinal malrotation, Feeding difficulties ORPHA:2255
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Hypoplasia of the maxilla, Flat acetabular roof, Delayed ossification of carpal bo... OMIM:300106
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Anal atresia, Persistent cloaca OMIM:615709

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 Dlx2

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 Dlx2.

No publications found that use IMPC mice or data for Dlx2.

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
Dlx2tm278564(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dlx2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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