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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, High palate, Dysphagia, Feeding difficulties OMIM:617055
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal pain, Abdominal distention, Jaundice ORPHA:313906
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Respiratory distress, Gastrostomy tube feeding in infancy, Dyspnea, Nasogastric tub... ORPHA:141152
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Feeding difficulties, Motor stereotypy, Death in infancy OMIM:616341
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Abdominal distention, Projectile vomiting, High pala... OMIM:620045
Auriculocondylar Syndrome 2A
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Stenosis of the external auditory c... OMIM:614669
Laryngotracheal Angioma
Vomiting, Intercostal retractions, Respiratory distress, Apnea, Cyanosis, Feeding difficulties ORPHA:137935
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy, Feeding difficulties OMIM:610992
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Gastroesophageal reflux, Velopharyngeal insufficiency, Long philtrum, Stapes ankylo... OMIM:614701
Achalasia-Microcephaly Syndrome
Micrognathia, Mandibular prognathia, Achalasia, Macrotia ORPHA:929
Symphalangism, Proximal, 1A
Conductive hearing impairment, Distal symphalangism of hands, Stapes ankylosis, Carpal synostosis... OMIM:185800
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Lower cranial nerve dysfunction, Abnormal peripheral action potential amplitud... ORPHA:90117
Primary Effusion Lymphoma
Dyspnea, Abdominal pain, Abdominal distention ORPHA:48686
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Delayed cranial suture closure, Respiratory distress, Gingival overgr... ORPHA:1832
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 5th finger, Con... OMIM:184460
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
Wolman Disease
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention OMIM:620151
Pierre Robin Syndrome
Feeding difficulties in infancy, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
High Altitude Pulmonary Edema
Nausea and vomiting, Cyanosis, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemia ORPHA:330012
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... ORPHA:199306
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility,... OMIM:613662
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Widely spaced teeth, Respiratory distress, Feeding difficulties, Micrognathia,... OMIM:300934
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Oral-phar... ORPHA:99772
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia OMIM:619751
Tetrasomy 18P
Long philtrum, Low-set, posteriorly rotated ears, Narrow mouth, Gait disturbance, Achalasia, Thin... ORPHA:3307
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Feeding difficulties in infancy, Apneic episodes precipitated by illness, f... OMIM:605809
Fetal Akinesia Deformation Sequence 4
Low-set ears, Skeletal muscle atrophy, Retrognathia, Arthrogryposis multiplex congenita, Microgna... OMIM:618393
Mullegama-Klein-Martinez Syndrome
Low-set ears, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Atresia of the ext... OMIM:301022
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... OMIM:254210
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Dystonia-Deafness Syndrome 1
Cleft upper lip, Pseudobulbar paralysis, Sensorineural hearing impairment, Loss of ambulation, Ac... OMIM:607371
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Joint dislocation, Cartilage destruction, Skeletal muscle atrophy ORPHA:2380
Small Bowel Atresia
Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F... ORPHA:1201
Triple A Syndrome
Optic atrophy, Motor axonal neuropathy, Sensorineural hearing impairment, Achalasia, Ataxia ORPHA:869
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Genu v... ORPHA:436174
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy OMIM:254120
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Congenital Myasthenic Syndrome
Low-set ears, Nasal regurgitation, Difficulty walking, Episodic respiratory distress, Sensorineur... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Nasal regurgitation, Difficulty walking, Episodic respiratory distress, Sensorineur... ORPHA:98914
2q33.1 deletion syndrome
High palate, Feeding difficulties in infancy, Cleft palate DECIPHER:51
Mucopolysaccharidosis, Type Ix
Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Periarticular so... OMIM:601492
Scleromyxedema
Gastroesophageal reflux, Generalized abnormality of skin, Narrow mouth, Abnormality of the gastro... ORPHA:167635
Congenital Myopathy 10A, Severe Variant
Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Abnormal motor nerve cond... OMIM:614399
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Folinic Acid-Responsive Seizures
Ataxia, Broad-based gait, Respiratory distress, Difficulty walking, Apnea, Abdominal distention ORPHA:79097
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Gastroesophageal reflux, Cleft upper lip, Feeding difficulties, Tented upper lip ve... OMIM:600987
Central Hypoventilation Syndrome, Congenital, 1
Low-set ears, Central hypoventilation, Nocturnal hypoventilation, Apnea, Feeding difficulties, In... OMIM:209880
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Hypoglossia With Situs Inversus
Microglossia, Malnutrition, Respiratory distress, Narrow mouth, Hypodontia, Feeding difficulties ... OMIM:612776
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Radioulnar s... ORPHA:798
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia OMIM:619099
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Nasogastric tube feeding, Abnormal gastrointestinal tract morp... ORPHA:1018
Multiple Synostoses Syndrome 1
Asymmetry of the mouth, Bilateral conductive hearing impairment, Conductive hearing impairment, S... OMIM:186500
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia, Facial palsy, Frontalis muscle weakness, Poor suck OMIM:300580
Laryngotracheoesophageal Cleft
Dyspnea, Cyanosis, Choking episodes, Impaired oropharyngeal swallow response ORPHA:2004
Athyreosis
Macroglossia, Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Intestinal mal... OMIM:615237
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental malocclu... OMIM:614188
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Joint contracture of the hand, Peripheral demyelination, Flexion... OMIM:609033
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Abnormality of the autonomic ner... OMIM:611376
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdomin... ORPHA:226313
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Sensorineural hearing impairment, Orofacial cleft, Achalasia, Macroglos... ORPHA:79107
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Skeletal muscle atrophy, Retrognathia, Abnormal anterior horn cell morphology, Micr... OMIM:611890
Auriculocondylar Syndrome
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Ham... ORPHA:137888
Malaria
Respiratory distress, Gait imbalance, Nausea and vomiting ORPHA:673
Malignant Peritoneal Mesothelioma
Dyspnea, Abdominal pain, Ileus, Abdominal distention ORPHA:168811
Multiple Synostoses Syndrome 4
Tarsal synostosis, Otosclerosis OMIM:617898
Neuralgic Amyotrophy
Bifid uvula, Acrocyanosis, Narrow mouth, Cleft palate ORPHA:2901
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Low-set ears, Dental crowding, Velopharyngeal insufficiency, Long philtrum, ... OMIM:619941
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Primary Peritoneal Carcinoma
Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention ORPHA:168829
Moyamoya Disease 6 With Or Without Achalasia
Cutis marmorata, Livedo reticularis, Dysphagia, Achalasia OMIM:615750
Branchiogenic-Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Submucous cleft hard p... OMIM:609166
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Choreoathetosis, Ataxia ORPHA:71277
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Combined Oxidative Phosphorylation Deficiency 30
Gastroesophageal reflux, Decreased liver function, Respiratory distress, Death in infancy, Feedin... OMIM:616974
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Monosodium Glutamate Sensitivity
Dyspnea, Nausea, Flushing OMIM:231630
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Sensorineural hearing impairment ORPHA:3239
Spinocerebellar Ataxia Type 27
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Gait disturbance, Tr... ORPHA:98764
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis OMIM:263000
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Respiratory distress, Micrognathia, Death in infancy, Thin upper lip vermilion, Hi... OMIM:615042
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Dysdiadochokinesis, Respiratory distress, Micrognathia... OMIM:157900
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Choanal Atresia
Respiratory distress, Choking episodes, Cyanosis, Feeding difficulties ORPHA:137914
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Abnormal fear-induced behavior, Difficulty walking, Nausea, Constipation, Episodic vomi... ORPHA:100924
Acquired Methemoglobinemia
Vomiting, Respiratory distress, Cyanosis, Dyspnea, Abdominal pain, Hypoxemia ORPHA:464453
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Chronic constipation, Broad philtrum, Abdominal distention, Hypo... ORPHA:3010
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Long philtrum, Dislocation of the femoral head, Micrognathia, Narrow ... OMIM:616007
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Falls ORPHA:240085
Hypoadrenocorticism, Familial
Vomiting, Apnea, Cyanosis, Feeding difficulties in infancy OMIM:240200
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Abnormal pattern of respiration ORPHA:77260
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis, Wormian bones, Hearing impairment OMIM:166220
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Nasogastric tube feeding in infancy, Macroglossia, High palate, Poor suck ORPHA:254864
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Inability to walk, Decrease... OMIM:218000
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscl... ORPHA:1435
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,... ORPHA:95427
Hereditary Methemoglobinemia
Athetosis, Exertional dyspnea, Cyanosis, Lip discoloration ORPHA:621
Maculopapular Cutaneous Mastocytosis
Erythema, Diarrhea, Dermatographic urticaria, Vomiting, Generalized abnormality of skin, Nausea, ... ORPHA:79457
Orofaciodigital Syndrome Xix
Low-set ears, Narrow palate, Carious teeth, Cupped ear, Downturned corners of mouth, Lobulated to... OMIM:620107
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention OMIM:606824
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth, Bilateral conductiv... OMIM:216300
Cryptogenic Organizing Pneumonia
Respiratory distress, Cyanosis, Anorexia, Dyspnea, Hypoxemia ORPHA:1302
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Feeding difficulties in infancy ORPHA:238329
X-Linked Centronuclear Myopathy
Respiratory distress, Inability to walk, Feeding difficulties in infancy, High palate, Poor suck ORPHA:596
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Treacher Collins Syndrome 2
Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,... OMIM:613717
Restrictive Dermopathy 2
Gastroesophageal reflux, Respiratory distress, Cyanosis, Rectal prolapse, Feeding difficulties OMIM:619793
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, Uplifted earlobe... OMIM:618779
Immunodeficiency 70
Celiac disease, Colitis, Achalasia, Recurrent sinusitis OMIM:618969
Robinow Syndrome, Autosomal Dominant 2
Abnormality of the dentition, Dental malocclusion, Dental crowding, Long philtrum, Hearing impair... OMIM:616331
Myopathy And Diabetes Mellitus
Tip-toe gait, Respiratory distress, Inability to walk, Sensorineural hearing impairment, Peripher... ORPHA:2596
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Ataxia, Chronic diarrhea, Acrocyanosis, Feeding difficulties OMIM:602473
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Apnea, Recurrent hand flapping, Protruding tongue, Cyanosis, Gait ataxia, Aggr... OMIM:619580
Brown-Vialetto-Van Laere Syndrome 1
Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Death in chi... OMIM:211530
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Conductive hearing impairment, Respiratory distress, Aglossia, Microg... OMIM:202650
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Strawberry tongue, Xerostomia, Smooth tongue, Abnormalit... ORPHA:353253
American Trypanosomiasis
Diarrhea, Aganglionic megacolon, Achalasia, Dyspnea, Abdominal pain, Abnormal large intestine phy... ORPHA:3386
Auriculocondylar Syndrome 4
Apnea, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Micrognathia, Acetabu... ORPHA:1143
Succinic Acidemia
Respiratory distress OMIM:600335
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Small intestin... ORPHA:298
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Respiratory distress, Gait ataxia, Feeding difficulties OMIM:612075
Hereditary Angioedema Type 1
Diarrhea, Dermatographic urticaria, Vomiting, Respiratory distress, Intestinal edema, Abdominal p... ORPHA:100050
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Hypopnea, Difficulty walking, Apnea, Ineffective esophageal peristalsis,... OMIM:619482
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Arthrogryposis Multiplex Congenita 6
Akinesia, Death in childhood, Death in infancy, Neonatal death OMIM:619334
Tetrasomy 5P
Low-set ears, Long philtrum, Respiratory distress, Micrognathia, Cyanosis, Hydrocephalus, High pa... ORPHA:3309
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Respiratory distress, Feeding difficulties, Reye syndrome-like episodes, Atax... ORPHA:927
Treacher Collins Syndrome 3
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... OMIM:248390
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Wormian bones, Hearing impairment OMIM:166200
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Vomiting, Nausea, Abdominal distention ORPHA:90003
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Respiratory distress, Stenosis of the external auditory canal, Feeding difficulties,... OMIM:606164
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Protruding e... OMIM:618737
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Swollen lip ORPHA:100057
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Decreased liver function, Death in... OMIM:608104
Alternating Hemiplegia Of Childhood
Ataxia, Diarrhea, Abdominal distention, Downturned corners of mouth, Oral-pharyngeal dysphagia, V... ORPHA:2131
Gaucher Disease, Perinatal Lethal
Low-set ears, Hepatic failure, Everted upper lip vermilion, Retrognathia, Respiratory distress, A... OMIM:608013
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Hypoplasia of the maxilla, Vomiting, Hearing impairment, Long philtrum, Difficulty ... ORPHA:481152
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora... OMIM:277320
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Cleft lip, Abnormal ear morphology, Cleft palate ORPHA:91412
Orofacial Cleft 13
Retrognathia, Micrognathia, Cleft soft palate, Malar flattening, Oligodontia OMIM:613857
Spondylocostal Dysostosis 1, Autosomal Recessive
Protuberant abdomen, Death in infancy, Abdominal distention OMIM:277300
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Pleural Mesothelioma
Respiratory distress, Dyspnea, Dysphagia ORPHA:50251
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Respiratory distress, Low-set, posteriorly rotated ears, Narrow internal auditory c... ORPHA:990
Solar Urticaria
Dermatographic urticaria, Angioedema, Abnormal lip morphology, Abnormal tongue morphology, Dyspne... ORPHA:97230
Primary Dystonia, Dyt4 Type
Respiratory distress, Open mouth, Gait disturbance, Dysphagia, Dysdiadochokinesis ORPHA:98805
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hearing impairment, Downturned corners of mouth, Feeding difficulties, Achalasia, Orthostatic hyp... OMIM:615510
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
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Abnormal pinna morpholog... OMIM:246560
Dysostosis Multiplex, Ain-Naz Type
Difficulty walking, Abdominal distention OMIM:619345
Letterer-Siwe Disease
Dyspnea, Jaundice, Stomatitis, Abdominal distention OMIM:246400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Feeding difficulties, Micrognathia, Thin vermilion border, Short philtrum, ... ORPHA:261304
Neuropathy, Congenital Hypomyelinating, 3
Low-set ears, Arthrogryposis multiplex congenita, Hearing impairment, Retrognathia, Decreased mot... OMIM:618186
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Choreoathetosis, Feeding dif... ORPHA:79312
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Gastroesophageal reflux, Cyanosis ORPHA:2414
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Abdominal distention OMIM:613885
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk OMIM:617977
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Microretrognathia, Respiratory distress, Agenesis of corpus callosum, Dysphagia, Fe... ORPHA:89844
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Apnea, Cyanosis, Abdominal rigidity, Abdominal diste... ORPHA:391673
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma... ORPHA:2521
17Q24.2 Microdeletion Syndrome
Tooth malposition, Otosclerosis, Abnormality of the ankle, Recurrent otitis media, Abnormality of... ORPHA:529962
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Joint contracture of the hand,... OMIM:136760
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea OMIM:265120
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Death in infancy, Neonatal death, Peripheral hypomyelination,... OMIM:616287
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Hearing impairment OMIM:615993
Primary Pulmonary Hypoplasia
Low-set ears, Patellar hypoplasia, Apnea, Micrognathia, Cyanosis, Tachypnea, Hypoxemia, Cleft palate ORPHA:2257
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn... ORPHA:3145
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth OMIM:600972
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Optic atrophy, Long philtrum, Delayed cranial suture closure, Respiratory distress,... OMIM:619383
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Bifid uvula, Conductive hearing impairment, Thick lower lip vermilion, Open mouth, ... OMIM:617412
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia, Hearing impairment OMIM:221350
Nipah Virus Disease
Respiratory distress, Nausea and vomiting, Anorexia ORPHA:99825
Perry Syndrome
Short stepped shuffling gait, Inappropriate behavior, Central hypoventilation, Akinesia, Hypovent... OMIM:168605
Congenital Myopathy 12
High, narrow palate, Akinesia, Death in infancy, High palate, Feeding difficulties, Poor suck OMIM:612540
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Cupped ear, Conductive hearing impairme... OMIM:616367
Hsd10 Disease, Infantile Type
Optic atrophy, Hearing impairment, Cyanosis, Loss of ambulation, Paroxysmal bursts of laughter, G... ORPHA:391428
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Lateral ventricle dilatation, Nasogastric tube feeding, Micrognathia, ... ORPHA:284417
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Abnormality of the dentition, Long philtrum, Cleft soft palate, Gingival overgrowth... OMIM:618529
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Optic atrophy, Ankle flexion contracture, Respiratory distress, Micrognathia... OMIM:608799
Spondylometaphyseal Dysplasia, Schmidt Type
Gastroesophageal reflux, Irregular acetabular roof, Stenosis of the external auditory canal, Abno... ORPHA:93316
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... ORPHA:92050
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Esophageal... ORPHA:75233
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Gastroesophageal reflux, Hypopnea, Vomiting, Respiratory distress, Apnea, Death in childhood, Dea... OMIM:618426
Aarskog-Scott Syndrome
Genu recurvatum, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of tee... ORPHA:915
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Carious teeth, Widely spaced teeth, Respiratory distress, Protuberant abdomen, Thic... OMIM:617102
Sepsis In Premature Infants
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... ORPHA:776
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Hearing impairment, Retrognathia, Feeding difficulties, Micrognathia, ... OMIM:620157
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Hypoplasia of the zygomatic bone, Anteriorly p... ORPHA:1555
Alfadhel Syndrome
Low-set ears, Retrognathia, Smooth philtrum, Aggressive behavior, Thin vermilion border, Short ph... OMIM:620655
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Thyroid Hypoplasia
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95720
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Flexion contracture, Congenital pyloric atresia, Microtia OMIM:612138
Otosclerosis 4
Mixed hearing impairment, Otosclerosis OMIM:611571
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Low-set ears, Conductive hearing impairment, Delayed eruption o... ORPHA:2780
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Mult... ORPHA:207
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Isolated Childhood Apraxia Of Speech
High, narrow palate, Overfolded helix, Submucous cleft hard palate ORPHA:209908
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Optic atrophy, Retrognathia, Abnormal lip morphology, Respiratory distress, ... ORPHA:2707
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Abnorm... ORPHA:93262
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Hearin... ORPHA:2712
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Immunodeficiency 95
Respiratory distress OMIM:619773
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea, Gastroesophageal reflux ORPHA:1949
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Nausea and vomiting, Death in infancy, Abnormality of the gas... ORPHA:2241
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Difficulty walking, Feeding difficulties in infancy, Dysphagia ORPHA:254875
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Long philtrum, Thin upper lip vermilion OMIM:614741
Diaphanospondylodysostosis
Respiratory distress, Cleft palate ORPHA:66637
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
8Q22.1 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodacty... ORPHA:178303
Fabry Disease
Optic atrophy, Hearing impairment, Thick lower lip vermilion, Vertigo, Malabsorption, Angiokerato... ORPHA:324
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Agenesis of corpus callosum OMIM:619466
Kniest Dysplasia
Conductive hearing impairment, Respiratory distress, Recurrent otitis media, Enlarged joints, Mal... OMIM:156550
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Protruding ear, Aggressive behavior, High palate ORPHA:85279
Holocarboxylase Synthetase Deficiency
Respiratory distress, Anorexia, Nausea and vomiting, Tachypnea, Ataxia ORPHA:79242
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Congenital diaphragmatic hernia, Neonatal dea... OMIM:615524
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Hypoxemia ORPHA:2140
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Joint dislocation, Akinesia, Micrognathia, Multiple pterygia, Vertebral fusion, Cle... OMIM:253290
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Difficulty walking, Dyspnea, Abdominal pain, Waddling gait ORPHA:86812
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Recurrent Respiratory Papillomatosis
Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia ORPHA:60032
Postsynaptic Congenital Myasthenic Syndromes
High palate, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Loss of ambulation, Ataxia, Abdominal pain, Dysphagia, Feeding difficulties OMIM:620166
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Pterygium, Akinesia, Micrognathia, Intestinal hypoplasia, Posteriorly ro... ORPHA:994
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Feeding difficulties ORPHA:26792
Tetanus
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Trismus, Abnormal autonomic nervo... ORPHA:3299
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Micrognathia, Knee flexion contracture, Cleft hard palate, Dislocated radial head, F... ORPHA:166016
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy... OMIM:610921
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Dental crowding, Tip-toe gait, Thick lower lip vermilion, Absent antih... ORPHA:293939
Liver Failure, Infantile, Transient
Vomiting, Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal dis... OMIM:613070
Amish Lethal Microcephaly
Optic atrophy, Micrognathia, Cleft soft palate, Death in infancy, Agenesis of corpus callosum, Sp... ORPHA:99742
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Recurrent infection of the gastrointestinal tract, Nausea, Abdominal distention, Abdomi... ORPHA:51890
Otosclerosis 10
Otosclerosis OMIM:615589
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Gastroesophageal reflux, Death in infancy, Hypoventilation, Abdominal distention, Feeding difficu... OMIM:620275
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Ovarian Fibroma
Abdominal pain, Odontogenic keratocysts of the jaw, Abdominal distention ORPHA:314473
Cardiomyopathy, Dilated, 2H
Tachypnea, Feeding difficulties, Neonatal death OMIM:620203
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Optic atrophy, Natal tooth, Atresia of the external auditory canal, A... OMIM:123790
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Abnormality of canine, Abnormality of the dentition, Optic atrop... ORPHA:363417
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Abnormality of the wrist, Narrow mouth, Senso... ORPHA:1529
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Hypoxemia ORPHA:140896
Intestinal Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Death in infancy, Dyspnea, Dysphagia ORPHA:178481
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormality of the dentition, Polyarticular arthritis, Exocrine pancreatic insufficiency, Abnorma... OMIM:615952
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Increased overbite, Protruding ear, Limited elbow... ORPHA:319171
Chiari Malformation Type Ii
Dysphagia, Cyanosis, Feeding difficulties, Ataxia OMIM:207950
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Aggressive behavior, Ataxia, Impulsivity, Progressive cerebel... OMIM:607454
Peritoneal Cystic Mesothelioma
Abdominal pain, Constipation, Abdominal distention ORPHA:168816
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Gastroesophageal reflux, Hearing impairment, Respiratory distress, Recurrent otitis media, Neonat... OMIM:616482
Synaptic Congenital Myasthenic Syndromes
Poor suck, Respiratory distress, Hypoventilation, Triangular mouth, Decreased size of nerve termi... ORPHA:98915
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia, Micrognathia, Flared elbow metaphyses ORPHA:1423
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Respiratory ... OMIM:610536
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Respiratory distress, Gait disturbance, Jaundice, Feeding difficulties OMIM:250940
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Facial telangiectasia, Intermittent jaundice, Episodic abdominal ... ORPHA:100085
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Congenital hip dislocation, Lateral ventricle dilatation,... ORPHA:457279
Branchiootic Syndrome
Abnormality of the outer ear, Lip pit, Hearing impairment, Conductive hearing impairment, Atresia... ORPHA:52429
Pancreatoblastoma
Vomiting, Diarrhea, Abdominal pain, Abdominal distention, Jaundice ORPHA:677
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Hip osteoar... ORPHA:580
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Neonatal death, High palate, Feeding difficulties OMIM:300219
Native American Myopathy
Bifid uvula, Conductive hearing impairment, Downturned corners of mouth, Skeletal muscle atrophy,... ORPHA:168572
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstru... ORPHA:343
Stickler Syndrome, Type I
Bifid uvula, Conductive hearing impairment, Micrognathia, Malar flattening, Submucous cleft hard ... OMIM:108300
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Conductive hearing impairment, Microretrognathia, Abnorm... ORPHA:1307
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... ORPHA:1145
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Unilateral cleft palate, Scapula... OMIM:619122
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Feeding difficulties in i... OMIM:620450
Mirage Syndrome
Gastroesophageal reflux, Petechiae, Achalasia, Hydrocephalus, Chronic diarrhea, Esophageal stricture OMIM:617053
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Respiratory distress, Apnea, Tented upper lip vermilion, Micrognathia, Hypoventilat... ORPHA:314655
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Axonal degeneration, Paradoxical respiration, Peripheral axonal neuropathy,... OMIM:620011
Bronchopulmonary Dysplasia
Respiratory distress, Dyspnea, Central apnea, Hyperoxemia ORPHA:70589
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Joint contracture of the hand, Dental m... OMIM:182212
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Feeding difficulties OMIM:615597
Tarp Syndrome
Small earlobe, Optic atrophy, Broad-based gait, Prominent antihelix, Hearing impairment, Low-set,... ORPHA:2886
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Thickened helices, Micr... ORPHA:261295
Van Maldergem Syndrome 1
Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Anteriorly placed an... OMIM:601390
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory ... ORPHA:2554
Double Outlet Right Ventricle
Intestinal malrotation, Feeding difficulties, Narrow mouth, Cyanosis, Submucous cleft hard palate... ORPHA:3426
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Hearing impairment, Myopathy, Neonatal death, Flexion contracture OMIM:618237
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Lateral ventricle dilatation, Difficulty walking, Gait imbalance, Genu valgum, Cyanosis, Sensorin... ORPHA:488627
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Hearing abnormality, Narrow mouth, Abnormal palate morphology, Promin... ORPHA:2412
Niemann-Pick Disease, Type A
Vomiting, Inability to walk, Feeding difficulties in infancy, Constipation, Protuberant abdomen, ... OMIM:257200
Nager Syndrome
Hypoplasia of the maxilla, Hearing impairment, Atresia of the external auditory canal, Hypoplasia... ORPHA:245
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Flat Face-Microstomia-Ear Anomaly Syndrome
High, narrow palate, Abnormal oral mucosa morphology, Aplasia/Hypoplasia of the earlobes, Downtur... ORPHA:1968
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Motor axonal neuropathy, Achalasia, Orthostatic hypotension, Abnormal autonomic ne... OMIM:231550
Manganese Poisoning
Inappropriate laughter, Akinesia, Aggressive behavior, Gait disturbance, Compulsive behaviors, Hy... ORPHA:306682
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia, Macrotia ORPHA:93950
Hydrolethalus
Low-set ears, Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Low-set, posterior... ORPHA:2189
Achondrogenesis Type 1A
Long philtrum, Abdominal distention ORPHA:93299
Congenital Myopathy 9A
Akinesia, Death in infancy OMIM:618822
Intellectual Disability-Alacrima-Achalasia Syndrome
Aggressive behavior, Deep philtrum, Dysphagia, Achalasia ORPHA:289483
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Micrognathia, Cyanosis, Thin upper lip vermilion, Protruding ear, High pa... ORPHA:3304
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Abducens palsy, Hyperactivity, Crowded maxillary incisors, Mandibular ... ORPHA:397973
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion,... ORPHA:438216
Crouzon Syndrome
Lambdoidal craniosynostosis, Optic atrophy, Hypoplasia of the maxilla, Coronal craniosynostosis, ... OMIM:123500
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... OMIM:270420
Nemaline Myopathy 10
Nemaline bodies, Skeletal muscle atrophy, Congenital contracture, Death in infancy, Neonatal deat... OMIM:616165
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Feeding difficulties in infancy ORPHA:45452
Ethylmalonic Encephalopathy
Diarrhea, Acrocyanosis, Petechiae, Ataxia ORPHA:51188
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Sensorineural hearing impairment, Osteoarthritis, Cleft... ORPHA:90653
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nasogastric tube feeding, Respiratory distress, Death in childhood, Death in infancy, Gastrostomy... OMIM:620278
Lead Poisoning
Vomiting, Abdominal distention, Delayed eruption of teeth, Nausea, Attention deficit hyperactivit... ORPHA:330015
Laryngomalacia
Respiratory distress OMIM:150280
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Cupped ear, Short philtrum, Mandibular prognathia, Macrotia ORPHA:93945
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention ORPHA:35710
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Apnea, Cyanosis, Meconium ileus, Feeding difficulties OMIM:617239
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Pterygium, Akinesia, Micrognathia, Agenesis of corpus callosum, Hydrocephalus, C... OMIM:225790
Coffin-Lowry Syndrome
Self-injurious behavior, Narrow palate, Optic atrophy, Hypoplasia of the maxilla, Craniofacial hy... ORPHA:192
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Dysphagia OMIM:613561
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Gastroesophageal reflux, Elbow dislocation, Long philtru... OMIM:613805
Pitt-Hopkins Syndrome
Tooth malposition, Abnormal helix morphology, Esophagitis, Ataxia, Self-injurious behavior, Gastr... ORPHA:2896
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Peripheral demyelination, Hearing impairment, Feeding difficulties OMIM:616733
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea, Hypoxemia ORPHA:178320
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Joint dislocation, Abnormal mandible morphology, Camptodactyly of finger, Su... ORPHA:3201
Cree Impaired Intellectual Development Syndrome
Low-set ears, Cleft soft palate, Posteriorly rotated ears, Micrognathia OMIM:606851
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ... OMIM:619950
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Downturned corners of mouth, Anteriorly placed anus, Respiratory distress... OMIM:217980
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Retrognathia, Cleft soft palate, Underdeveloped antitragus, Smooth philtrum,... ORPHA:293725
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Progeroid facial appearance, ... OMIM:608154
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Long philtrum, Wide mouth, Open mouth, Lactose intolerance, Gait disturbance, Hyperactivity, Prot... ORPHA:457485
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Inability to walk, Esophagitis, Achalasia, Ataxia, Truncal ataxia, Athetosis,... OMIM:615356
Loeys-Dietz Syndrome 5
Bifid uvula, Retrognathia, Decreased muscle mass, Cleft soft palate, Tented upper lip vermilion, ... OMIM:615582
Lethal Kniest-Like Dysplasia
Low-set ears, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, Wide anteri... ORPHA:2347
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Low-set ears, Cupped ear, Lateral ventricle dilatation, Long philtrum, Anter... OMIM:612863
Arthrogryposis, Distal, Type 3
Bifid uvula, Congenital hip dislocation, Decreased muscle mass, Camptodactyly of finger, Microgna... OMIM:114300
Episodic Ataxia Type 1
Respiratory distress, Nausea, Tip-toe gait, Choreoathetosis ORPHA:37612
Schilbach-Rott Syndrome
Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate, Posteriorly rotated ears, M... OMIM:164220
Thyroid Lymphoma
Respiratory distress, Dyspnea, Dysphagia ORPHA:97285
Multiple Acyl-Coa Dehydrogenase Deficiency
Vomiting, Respiratory distress, Neonatal death, Nausea, Jaundice, Abnormal pinna morphology, Wide... OMIM:231680
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Death in infancy, Alveolar ridge overgrowth, Thin up... OMIM:235255
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Inability to walk, ... OMIM:166300
Apert Syndrome
Bifid uvula, Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Delayed eru... ORPHA:87
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Dysphagia, Loss of ambulation OMIM:620375
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Shuffling gait, Hypoplasia of the maxilla, Diastema, Furrowed tongue, Micrognathia, Thin upper li... OMIM:300534
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia, Feeding difficulties OMIM:619911
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Tachypnea, Hypoperistalsis OMIM:613834
Achalasia, Familial Esophageal
Rheumatoid arthritis, Xerostomia, Achalasia OMIM:200400
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Gastroesophageal reflux, Hearing impairment, Akinesia, Truncal ataxia, Optic disc ... OMIM:618249
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Retrognathia, Branchial cyst, Stenosi... ORPHA:107
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia, Mandibular prognathia, Cleft p... ORPHA:1248
Arthrogryposis Multiplex Congenita 5
Prominent antihelix, Long philtrum, Premature skin wrinkling, Elbow flexion contracture, Akinesia... OMIM:618947
Mirizzi Syndrome
Vomiting, Abdominal colic, Anorexia, Nausea, Abdominal pain, Abdominal distention, Jaundice ORPHA:521219
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Esophageal Atresia
Hearing impairment, Esophagitis, Abnormal gastrointestinal tract morphology, Oral aversion, Episo... ORPHA:1199
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Oromandibular Dystonia
Abnormality of the temporomandibular joint, Abnormal mandible morphology, Respiratory distress, A... ORPHA:93958
Idiopathic Pulmonary Fibrosis
Acrocyanosis, Orthodeoxia, Exertional dyspnea, Gastroesophageal reflux ORPHA:2032
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Low-set ears, Hypoplasia of the maxilla, Downturned corners of m... ORPHA:2409
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Bruising susceptibility, Gastroparesis, Abdominal disten... ORPHA:85443
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Abnormal cranial nerve morphology, Gait ataxia, Abnormal autonomic nerv... ORPHA:247234
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Abdominal distention, Neonatal death OMIM:619362
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence OMIM:620183
Thyroid Hemiagenesis
Macroglossia, Jaundice, Constipation, Abdominal distention ORPHA:95719
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Mandibular prognathia, Head-banging, Unilateral cleft lip, Thick lower lip vermilio... OMIM:619103
Van Maldergem Syndrome 2
Hypoplasia of the maxilla, Dental malocclusion, Downturned corners of mouth, Anteriorly placed an... OMIM:615546
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Facial hypotonia OMIM:614526
N-Acetylglutamate Synthase Deficiency
Vomiting, Respiratory distress, Aggressive behavior, Tachypnea, Anorexia OMIM:237310
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Vomiting, Respiratory distress, Death in infancy, Tachypnea, Ataxia OMIM:614299
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Respiratory distress, Death i... ORPHA:166272
Craniosynostosis 2
Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Wormian bones, Metopic synostosis... OMIM:604757
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ... OMIM:612292
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Respiratory distress, Ab... ORPHA:2759
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Thin upper lip vermilion, Exertional dyspnea, Abdominal disten... OMIM:620233
Generalized Arterial Calcification Of Infancy
Vomiting, Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Respiratory distre... ORPHA:51608
Meckel Syndrome 14
Low-set ears, Microretrognathia, Occipital encephalocele, Retrognathia, Micrognathia, Cyanosis, P... OMIM:619879
Colonic Atresia
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis ORPHA:1198
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Dental malocclusion, Nasogastric tube feeding, Respiratory distress, Micrognathia,... ORPHA:329178
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Posteriorly rotated ears, Thick ... OMIM:618106
Asbestos Intoxication
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia ORPHA:2302
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Agenesis of cor... OMIM:109120
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Long philtrum, Thick lower lip vermilion, Joint contracture of the 5th finge... OMIM:614407
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Nausea and vomiting, Choreoathetosis ORPHA:289916
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Mercury Poisoning
Respiratory distress, Episodic abdominal pain, Episodic vomiting, Anorexia, Dyspnea, Nausea ORPHA:330021
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Abdomina... ORPHA:335
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, High palate, Mandibular prognathia, Chronic constipation OMIM:300676
Carpenter Syndrome 1
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Lambdoidal craniosynostosis, Conductive h... OMIM:201000
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Anaplastic Thyroid Carcinoma
Respiratory distress, Tracheoesophageal fistula, Dyspnea, Dysphagia ORPHA:142
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Agenesis of c... OMIM:309520
Myotonic Dystrophy 1
Respiratory distress, Feeding difficulties in infancy, Dysphagia, Obsessive-compulsive trait OMIM:160900
Meier-Gorlin Syndrome 1
Low-set ears, Joint contracture of the hand, Hearing impairment, Atresia of the external auditory... OMIM:224690
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Cerebrocostomandibular Syndrome
Low-set ears, Congenital hip dislocation, Anal stenosis, Carious teeth, Cleft lip, Conductive hea... OMIM:117650
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Hydroc... OMIM:614886
Angelman Syndrome
Broad-based gait, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protrudi... OMIM:105830
Cleidocranial Dysplasia
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hear... ORPHA:1452
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Optic atrophy, Hypoplasi... OMIM:216550
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Conductive hearing impairment, Micrognathia, Accessory oral frenulum, ... OMIM:252100
Odontochondrodysplasia 1
Genu recurvatum, Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Respiratory... OMIM:184260
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Hypoplasia of the maxilla, Gastroesophageal reflux, Long ... ORPHA:251061
Desmoplastic Small Round Cell Tumor
Abdominal pain, Ileus, Nausea and vomiting, Abdominal distention ORPHA:83469
Pulmonary Alveolar Proteinosis, Acquired
Dyspnea, Hypoxemia, Cyanosis OMIM:610910
Sialuria
Long philtrum, Thin upper lip vermilion, Smooth philtrum, Attention deficit hyperactivity disorde... OMIM:269921
Gonadoblastoma
Abdominal pain, Abdominal distention ORPHA:206484
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Low-set ears, Hypoplasia of the zygomatic bone, Genu valgum, Protruding ear, Smooth philtrum, Cub... ORPHA:1778
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing im... ORPHA:794
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Fulminant hepatic failure, Abdominal distention OMIM:618528
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Shuffling gait, Restlessness OMIM:300266
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Feeding difficulties in infancy, Paroxysmal dyspnea ORPHA:444013
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Optic atrophy, Aplasia/Hypoplasia of the earlo... ORPHA:193
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Irregular respiration, High palate, Feeding difficulties OMIM:604377
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Feeding difficulties, Apnea, Open mouth, Agitation, Gingival overgrowth... OMIM:620423
Achondrogenesis, Type Ii
Protuberant abdomen, Long philtrum, Cleft palate, Stillbirth OMIM:200610
Combined Oxidative Phosphorylation Deficiency 53
Death in childhood, Death in infancy, Abdominal distention OMIM:619423
Orofaciodigital Syndrome Type 4
Low-set ears, Abnormality of the outer ear, Abnormal joint morphology, Micrognathia, Perineal fis... ORPHA:2753
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Camptodactyly of finger, Temporomandi... ORPHA:217085
Gallbladder Neuroendocrine Tumor
Anorexia, Intermittent jaundice, Episodic abdominal pain, Abdominal distention, Nausea ORPHA:100086
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, Peripheral axonal neuropat... OMIM:115150
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia ORPHA:264675
Celiac Disease, Susceptibility To, 1
Ataxia, Diarrhea, Vomiting, Recurrent aphthous stomatitis, Abdominal pain, Enamel hypoplasia, Abd... OMIM:212750
Avian Influenza
Diarrhea, Vomiting, Respiratory distress, Tachypnea, Dyspnea, Abdominal pain, Hypoxemia, Miscarriage ORPHA:454836
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Respiratory distress... OMIM:618733
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Vomiting, Long philtrum, Akinesia, Narrow mouth, Death in childhood OMIM:619147
Buratti-Harel Syndrome
Low-set ears, Bifid uvula, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate... OMIM:619314
Pediatric Systemic Lupus Erythematosus
Diarrhea, Vomiting, Oral ulcer, Abdominal distention, Dyspnea, Abdominal pain ORPHA:93552
X-Linked Mandibulofacial Dysostosis
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ear... ORPHA:1131
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Gastrostomy tube feeding in infancy, Hypodontia, Restlessness, Feeding diff... ORPHA:544503
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Ataxia, Hepatic failure, Diarrhea, Vomiting, Broad-based gait, Respiratory distress, Acute hepati... OMIM:256810
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Short philtrum, Hypoplasia of the maxilla, Premature loss of teeth OMIM:156510
Kufor-Rakeb Syndrome
Akinesia, Aggressive behavior, Gait disturbance, Ataxia, Dysphagia OMIM:606693
Cirrhosis, Familial
Jaundice, Fulminant hepatitis, Esophageal varix, Abdominal distention OMIM:215600
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Camptodactyly of finger, Temporomandi... ORPHA:217093
Rapp-Hodgkin Syndrome
Bifid uvula, Conical tooth, Carious teeth, Hypoplasia of the maxilla, Velopharyngeal insufficienc... OMIM:129400
Prader-Willi Syndrome Due To Translocation
Carious teeth, Lateral ventricle dilatation, Micrognathia, Feeding difficulties in infancy, Evert... ORPHA:177907
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Dyspnea, Jaundice ORPHA:160
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Respiratory distress, Oxygen desaturation on exertion, Difficulty walking, Tach... OMIM:610978
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Low-set, posteriorl... ORPHA:1110
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Bilateral cleft pa... OMIM:610829
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Abdominal distention ORPHA:85166
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, Abnormality of the middle ear, High palate,... ORPHA:861
Postencephalitic Parkinsonism
Akinesia, Vomiting, Dysphagia, Open mouth ORPHA:97349
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Bifid uvula, Hearing impairment, Respiratory distress, Malar flattening, Lim... OMIM:183900
Hereditary Fructose Intolerance
Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Abdominal pain, Constipation, Abdominal dist... ORPHA:469
Chylomicron Retention Disease
Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Optic disc coloboma, Pursed lips, Aglossia, ... OMIM:241310
Neuroblastoma
Abdominal distention, Respiratory distress, Antalgic gait, Ataxia, Chronic diarrhea ORPHA:635
Meier-Gorlin Syndrome 4
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia... OMIM:613804
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Low-set, posteriorly rotated ears, Death in infancy, Neonatal... ORPHA:85212
Cerebrofacioarticular Syndrome
Self-injurious behavior, Anal stenosis, Hypoplasia of the maxilla, Conductive hearing impairment,... ORPHA:314679
Holoprosencephaly 13, X-Linked
Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hearing impairment, Gastroes... OMIM:301043
Classic Progressive Supranuclear Palsy Syndrome
Neuromuscular dysphagia, Falls, Akinesia, Gait imbalance, Impulsivity ORPHA:240071
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial suture closure, Low-set, posteri... ORPHA:83
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Self... ORPHA:1051
Dubowitz Syndrome
Hearing impairment, Delayed cranial suture closure, Cutis marmorata, Micrognathia, Abnormal antih... ORPHA:235
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Conductive hearing impairment, Delayed eruption of teeth, Widely spaced teeth, Abn... ORPHA:1071
Tricuspid Atresia
Cyanosis ORPHA:1209
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Apnea, Cyanosis OMIM:261680
Mogs-Cdg
Optic atrophy, Retrognathia, Nasogastric tube feeding, Respiratory distress, Apnea, Hypoventilati... ORPHA:79330
Walker-Warburg Syndrome
Low-set ears, Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystro... ORPHA:899
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Dravet Syndrome
Progressive gait ataxia, Cyanotic episode, Obsessive-compulsive trait, Impulsivity ORPHA:33069
Marshall Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long p... ORPHA:560
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Decreased liver function, Respiratory distress, Death in childhood, Sensorineural ... OMIM:220110
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Hearing impairment, Cleft palate OMIM:614261
Stt3B-Cdg
Respiratory distress, Feeding difficulties ORPHA:370924
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Malan Syndrome
Retrognathia, Cutis marmorata, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, ... OMIM:614753
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Hypoplasia of the zygomatic bone, Cleft upper lip, A... ORPHA:3253
Congenital Myopathy 22B, Severe Fetal
Low-set ears, Dental crowding, Retrognathia, Respiratory distress, Elbow flexion contracture, Mic... OMIM:620369
Neu-Laxova Syndrome
Bifid uvula, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal ... ORPHA:2671
Parkinson Disease 17
Akinesia OMIM:614203
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Diarrhea, Dyspnea ORPHA:411703