Not currently registered for phenotyping at IMPC

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

Gene Summary

integrin beta 4

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Itgb4 mutations

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

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

The table below shows human diseases associated to Itgb4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Itgb4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Rheumatoid Nodulosis
Subcutaneous nodule OMIM:180350
Milia, Multiple Eruptive
Milia OMIM:157400
Nevus Comedonicus
Nevus comedonicus OMIM:617025
Nevus Anemicus
Nevus anemicus, Nevus OMIM:163050
Elastosis Perforans Serpiginosa
Nevus OMIM:130100
Capillary Malformations, Congenital
Nevus flammeus OMIM:163000
Nevus Flammeus Of Nape Of Neck
Nevus flammeus nuchae OMIM:163100
Knuckle Pads
Subcutaneous nodule OMIM:149100
Epidermoid Cysts
Epidermoid cyst OMIM:131600
Dyschromatosis Universalis Hereditaria 3
Hypermelanotic macule, Hypopigmented macule OMIM:615402
Syringocystadenoma Papilliferum
Subcutaneous nodule, Nevus sebaceous, Papule ORPHA:840
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Parakeratosis, Striae distensae, Pruritus on foot, Facial erythema... ORPHA:64745
Darier Disease
Palmoplantar keratoderma, Pruritus, Anal mucosal leukoplakia, Acrokeratosis, Plantar pits, Macule... ORPHA:218
Pemphigus Foliaceus
Pruritus, Abnormal oral mucosa morphology, Annular cutaneous lesion, Acantholysis, Erythema, Eryt... ORPHA:79481
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Aplasia Cutis Congenita, Nonsyndromic
Aplasia cutis congenita over the scalp vertex OMIM:107600
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Keloids, Pruritus, Oral mucosal blisters, Atypical scarring of skin, Carious teeth, Erythematous ... ORPHA:79410
Familial Benign Chronic Pemphigus
Erythema, Skin vesicle, Skin erosion ORPHA:2841
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Dowling-Degos Disease
Epidermoid cyst, Pruritus, Acne inversa, Digital pitting scar, Hypopigmented macule, Anal margin ... ORPHA:79145
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Iga Pemphigus
Neutrophilic infiltration of the skin, Pruritus, Oral mucosal blisters, Cutaneous abscess, Annula... ORPHA:555905
Lichen Planus Pemphigoides
Hyperkeratosis, Pruritus, Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Retinitis Pigmentosa 81
Pallor OMIM:617871
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Abnormal intestine morphology, Villous atrophy, Dehydration, Death in infancy OMIM:251850
Dermatitis Herpetiformis
Pruritus, Erythema, Macule, Eczema, Malabsorption, Edema, Skin vesicle ORPHA:1656
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Pruritus, Skin vesicle, Parakeratosis ORPHA:158681
Wells Syndrome
Skin vesicle ORPHA:901
Pierre Robin Syndrome
Pierre-Robin sequence, Upper airway obstruction, Glossoptosis, Neonatal respiratory distress, Cle... OMIM:261800
Lactase Deficiency, Congenital
Dehydration, Decreased small intestinal mucosa lactase level, Lactose intolerance, Diarrhea OMIM:223000
Inflammatory Skin And Bowel Disease, Neonatal, 2
Papule, Pustule, Dehydration, Edema, Diarrhea, Vomiting OMIM:616069
Warty Dyskeratoma
Abnormality of the alveolar ridges, Abnormal hard palate morphology, Umbilicated nodule, Acanthol... ORPHA:69745
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Abnormal oral mucosa morphology, Maculopapular exanthema, Inflammator... ORPHA:79147
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate ORPHA:718
Darier-White Disease
Pruritus, Acantholysis, Acrokeratosis, Plantar pits, Palmar pits, Hypermelanotic macule, Subungua... OMIM:124200
Pemphigus Erythematosus
Hypopigmented skin patches, Acantholysis, Localized skin lesion, Erythematous plaque, Malar rash,... ORPHA:79480
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Oral mucosal blisters, Hypomelanotic macule, Palmar hyperkeratosis, Papule, Hyperkerato... ORPHA:79399
Porokeratosis Of Mibelli
Hyperkeratosis, Pruritus, Aplasia/Hypoplasia of the skin ORPHA:735
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Pyoderma Gangrenosum
Skin ulcer, Papule, Skin vesicle, Atrophic scars ORPHA:48104
Autosomal Dominant Hyper-Ige Syndrome
Pruritus, Delayed eruption of teeth, Papule, Cough, Eczema, Atelectasis, Skin vesicle, Gingivitis... ORPHA:2314
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure, Redundant skin OMIM:301021
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Oral mucosal blisters, Milia, Palmoplantar hyperkeratosis, Atrophic scars, Hyperkeratos... ORPHA:89838
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle, Angular cheilitis OMIM:613102
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial edema OMIM:155900
Localized Epidermolysis Bullosa Simplex
Pruritus, Oral mucosal blisters, Palmar hyperkeratosis, Focal friction-related palmoplantar hyper... ORPHA:79400
Odontoma-Dysphagia Syndrome
Abnormal esophagus morphology, Dysphagia OMIM:164330
Pemphigus Vulgaris
Acantholysis, Recurrent cutaneous abscess formation, Atypical scarring of skin, Abnormal oral cav... ORPHA:704
Reticular Dysgenesis
Malabsorption, Dehydration, Skin ulcer, Diarrhea, Skin rash ORPHA:33355
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Diarrhea, Vomiting OMIM:610370
Superficial Epidermolytic Ichthyosis
Erythema, Thin skin, Palmoplantar keratoderma, Acantholysis ORPHA:455
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Vomiting, Chroni... OMIM:615237
Lipoid Proteinosis
Tongue nodules, High palate, Abnormal oral mucosa morphology, Thick lower lip vermilion, Papule, ... ORPHA:530
Alpha-Methylacetoacetic Aciduria
Dehydration, Vomiting OMIM:203750
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Gastroesophageal reflux, Respiratory failure, Tongue... OMIM:614399
Hennekam-Beemer Syndrome
High palate, Pruritus, Pneumonia, Thick lower lip vermilion, Papule, Erythema, Macule, Subcutaneo... ORPHA:2135
Combined Malonic And Methylmalonic Aciduria
Dehydration, Diarrhea, Vomiting OMIM:614265
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Skin ulcer ORPHA:2337
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Dysphagia, R... ORPHA:266
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Milia, Palmoplantar hyperkeratosis, Erythema, Erythematous plaque, Esophageal str... ORPHA:158673
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Constipation, Vomiting, Aganglionic megacolon, Abnormality of the s... ORPHA:95427
Atrophoderma Vermiculata
Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Follicular hyperkeratosis, Hypoplast... ORPHA:79100
Lethal Osteosclerotic Bone Dysplasia
Gingival fibromatosis, Respiratory failure, Dyspnea, Respiratory distress, Median cleft lip and p... ORPHA:1832
Familial Cold Urticaria
Dehydration, Polydipsia, Erythema, Pruritus ORPHA:47045
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Dermal atrophy, Papule, Hyperkeratosis, Subcutaneous nodule, Milia, Skin plaque, Atroph... ORPHA:89843
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Dysphagi... ORPHA:90117
Epidermolysis Bullosa, Lethal Acantholytic
Acantholysis, Aplasia cutis congenita, Natal tooth, Neonatal death, Skin erosion OMIM:609638
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Microglossia, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Clef... ORPHA:141152
Enteric Anendocrinosis
Dehydration, Diarrhea, Malabsorption, Vomiting ORPHA:83620
Sweet Syndrome
Acne inversa, Acne, Inflammation of the large intestine, Erythematous plaque, Skin vesicle, Pyode... ORPHA:3243
Dyskeratosis Congenita
Oral leukoplakia, Palmoplantar keratoderma, Hypopigmented skin patches, Hypodontia, Tracheoesopha... ORPHA:1775
Erythrokeratodermia Variabilis Et Progressiva 6
Erythematous plaque, Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakerat... OMIM:618531
Lamellar Ichthyosis
Pruritus, Dry skin, Hyperkeratosis, Erythroderma, Dehydration, Lack of skin elasticity ORPHA:313
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Dysphagia OMIM:615348
Porphyria Variegata
Ileus, Nausea, Constipation, Localized skin lesion, Hepatocellular carcinoma, Milia, Skin vesicle... ORPHA:79473
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration, Vomiting ORPHA:79159
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:409
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Dehydration, Edema, Diarrhea ORPHA:103910
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Respiratory failure OMIM:600561
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Erythroderma, ... OMIM:615508
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, High palate, Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:611890
Gilbert Syndrome
Dehydration OMIM:143500
Lichen Planopilaris
Pruritus, Hypopigmented skin patches, Dermal atrophy, Papule, Hyperkeratosis, Abnormal intestine ... ORPHA:525
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Pruritus, Papule, Abnormal oral cavity morphology, Eczema, Erythroderma... ORPHA:2897
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Dysphagia OMIM:618958
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Cataract, Glossoptosis OMIM:614876
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Palmoplantar keratoderma, Gastrointestinal hemorrhage, Ascites, Gastroesopha... ORPHA:2198
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration, Neonatal death, Vomiting OMIM:602199
Auriculocondylar Syndrome 2
Narrow mouth, Snoring, Dental crowding, Glossoptosis, Mandibular condyle aplasia, Mandibular cond... OMIM:614669
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Nausea, Abnormal peristalsis, Gastroesophageal reflux, Vomiting, Esophageal exudate, Esophageal a... ORPHA:411696
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, Respiratory failure, Dysphagia OMIM:618637
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Malabsorption, Respiratory insufficiency, Death in infancy, ... ORPHA:1954
Congenital Tufting Enteropathy
Vomiting, Abnormal small intestinal mucosa morphology, Chronic diarrhea, Anal atresia, Malabsorpt... ORPHA:92050
Psoriasis 14, Pustular
Parakeratosis, Erythema, Furrowed tongue, Psoriasiform dermatitis, Pustule, Geographic tongue OMIM:614204
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Petechiae, Pruritus, Erythema nodosum, Maculopapular exanthema, Erythema, Macule, Skin vesicle, P... ORPHA:324625
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Abnormality of the mouth, Esophageal carcinoma, Parakeratosis OMIM:148500
Solar Urticaria
Pruritus, Abnormal tongue morphology, Dyspnea, Wheezing, Abnormal lip morphology ORPHA:97230
Microvillus Inclusion Disease
Pruritus, Villous atrophy, Dehydration, Abnormality of small intestinal villus morphology, Diarrhea ORPHA:2290
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weakness, Dysph... ORPHA:254875
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Central Diabetes Insipidus
Dehydration, Polydipsia, Diarrhea ORPHA:178029
Hyperekplexia 4
High palate, Respiratory failure OMIM:618011
Combined Malonic And Methylmalonic Acidemia
Dehydration, Intermittent diarrhea, Vomiting ORPHA:289504
Hereditary Mucoepithelial Dysplasia
Corneal dystrophy, Hematuria, Cataract, Tracheoesophageal fistula, Fine hair, Hyperkeratosis, Fur... ORPHA:1839
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema, Oral ulcer, Gingivitis, Skin erosion ORPHA:83453
Chronic Graft Versus Host Disease
Airway obstruction, Intermittent generalized erythematous papular rash, Gastroesophageal reflux, ... ORPHA:99921
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Underdeveloped nasal alae, Polyhydramnios, Neonatal death, Congenital pyloric atresia, Anteverted... OMIM:612138
Autosomal Agammaglobulinemia
High palate, Recurrent skin infections, Malabsorption, Dehydration, Diarrhea, Skin rash ORPHA:33110
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory insufficiency, Respiratory failure ORPHA:370968
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Deep philtrum, Skin vesicle, Recurrent gastroenteritis, Severe periodontitis... ORPHA:99843
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Toxic Epidermal Necrolysis
Intestinal perforation, Restrictive ventilatory defect, Gastrointestinal hemorrhage, Tracheoesoph... ORPHA:537
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory insufficiency, Respiratory failure OMIM:228940
Abnormal respiratory system physiology, Sinusitis, Abnormal jejunum morphology, Pneumonia, Unusua... ORPHA:449280
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Respiratory failure OMIM:618291
Glucose/Galactose Malabsorption
Hypertonic dehydration, Chronic diarrhea, Malabsorption OMIM:606824
Transient Neonatal Diabetes Mellitus
Dehydration, Macroglossia ORPHA:99886
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Hyperchlorhidrosis, Isolated
Dehydration, Hypernatremic dehydration OMIM:143860
Netherton Syndrome
Eczema, Erythroderma, Malabsorption, Dehydration, Dry skin, Skin rash ORPHA:634
Mulibrey Nanism
Corneal dystrophy, Enamel hypoplasia, Hydrops fetalis, Hypodontia, Astigmatism, Wide nasal bridge... OMIM:253250
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Respiratory failure, Abnormality of the philtrum, Dyspnea, Resp... ORPHA:2759
Intermediate Nemaline Myopathy
Long philtrum, Respiratory failure, Dysphagia, High, narrow palate ORPHA:171433
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Late inspiratory crackles, Oxygen... ORPHA:2302
Auriculocondylar Syndrome 1
Narrow mouth, Snoring, Impaired mastication, Dental crowding, Glossoptosis, Anterior open-bite ma... OMIM:602483
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Harlequin Ichthyosis
Hyperkeratosis, Erythroderma, Dehydration ORPHA:457
Plummer-Vinson Syndrome
Tongue atrophy, Narrow mouth, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Pallor, Glossit... ORPHA:54028
Cronkhite-Canada Syndrome
Patchy alopecia, Colon cancer, Aplasia/Hypoplasia of the eyebrow, Dystrophic toenail, Cataract, S... ORPHA:2930
Oculocerebrofacial Syndrome, Kaufman Type
Short philtrum, Abnormal lip morphology, Microdontia, Respiratory failure, High, narrow palate, D... ORPHA:2707
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory failure OMIM:614299
3-Methylglutaconic Aciduria, Type Viii
Apnea, Death in infancy, Respiratory failure OMIM:617248
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory failure, Neonatal death, Death in childhood, Neonatal respiratory distress, Respirato... OMIM:245400
Boutonneuse Fever
Petechiae, Maculopapular exanthema, Respiratory failure, Skin detachment, Macule, Skin nodule, Sk... ORPHA:83313
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth, Anal atresia OMIM:276950
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Aplasia cutis congenita, Esophageal atresia, Polyhydramnios, Congenital pyl... OMIM:226730
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory failure, Respiratory insufficiency OMIM:615330
Netherton Syndrome
Angioedema, Parakeratosis, Erythroderma, Abnormal intestine morphology, Hypernatremic dehydration... OMIM:256500
Snakebite Envenomation
Ecchymosis, Gingival bleeding, Respiratory failure, Erythema, Localized skin lesion, Respiratory ... ORPHA:449285
Stevens-Johnson Syndrome
Restrictive ventilatory defect, Gastrointestinal hemorrhage, Acantholysis, Excessive salivation, ... ORPHA:36426
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Woolly hair, Death in adolescence, Tooth agenesis, Edema, Death in earl... OMIM:605676
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, High palate, Cataract, Everted lower lip vermilion, Furrowed tongue, Depressed na... ORPHA:1387
Myopathy, Centronuclear, X-Linked
High palate, Respiratory failure requiring assisted ventilation, Respiratory failure, Pyloric ste... OMIM:310400
Sinusitis, Pneumonia, Abnormality on pulmonary function testing, Asthma, Cough, Rhinorrhea, Bronc... ORPHA:1163
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Esophageal varix, Neonatal death, Oligohydramnios, Dehydration OMIM:263200
Orofaciodigital Syndrome Xv
Lobulated tongue, Anteverted nares, Wide nasal bridge, Hydronephrosis OMIM:617127
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Dehydration, Polydipsia, Malabsorption, Vomiting ORPHA:213
Familial Renal Glucosuria
Dehydration ORPHA:69076
Methylmalonyl-Coa Epimerase Deficiency
Dehydration, Gastroesophageal reflux OMIM:251120
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Narrow mouth, Recurrent skin infections, Atypical scarring of skin, Milia, Gastroesophageal reflu... ORPHA:89842
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Constipation, Esophageal stricture, Dysphagia, Abnormal esophagus morphology, Milia, Spontaneous ... OMIM:226600
Lethal Acantholytic Erosive Disorder
Natal tooth, Respiratory failure, Acantholysis, Cleft palate ORPHA:158687
Hartnup Disorder
Neutral hyperaminoaciduria, Glossitis OMIM:234500
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Burning Mouth Syndrome
Tongue pain, Parageusia, Smooth tongue, Abnormality of taste sensation, Burning mouth, Strawberry... ORPHA:353253
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate, Highly arched eyebrow ORPHA:1388
Postsynaptic Congenital Myasthenic Syndromes
High palate, Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, Orthopnea, ... ORPHA:98913
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration, Vomiting OMIM:602722
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Edema, Corneal dystrophy, Corneal degeneration OMIM:610158
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:608647
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Temporal hypotrichosis, Underdeveloped nasal alae, Wi... ORPHA:3241
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Tachypnea, Cough, Respiratory distress OMIM:263000
Hypotrichosis Simplex Of The Scalp
Pruritus, Parakeratosis, Hyperkeratosis, Allergic rhinitis, Atopic dermatitis, Scaling skin ORPHA:90368
Isovaleric Acidemia
Dehydration, Vomiting OMIM:243500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Respiratory failure, Central sleep apnea, Obstructive sleep apnea, Dysph... ORPHA:70472
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Abnormal hair morphology, Pedal edema, Malabsorption, Edema, Stillbirth OMIM:152800
Surfactant Metabolism Dysfunction, Pulmonary, 1
Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pulmonary arterial hypertension, Neonata... OMIM:265120
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Underdeveloped nasal alae, Microglossia, Prominent nasa... OMIM:277720
Hypercalcemia, Infantile, 1
Dehydration, Vomiting OMIM:143880
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Periauricular skin pits, Snoring, Hamartoma of tongue, Microglossia, O... ORPHA:137888
Hemifacial Atrophy, Progressive
Tongue atrophy, Patchy alopecia, Delayed eruption of teeth, Poliosis, Dental malocclusion, Short ... OMIM:141300
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Olmsted Syndrome 1
Palmoplantar keratoderma, Parakeratosis, Corneal opacity, Nail dystrophy, Alopecia universalis, O... OMIM:614594
Osteootohepatoenteric Syndrome
Pruritus, Episodic vomiting, Increased intestinal transit time, Ileoileal intussusception, Villou... OMIM:619377
Pachyonychia Congenita 3
Oral leukoplakia, Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Gingivitis, Plant... OMIM:615726
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Respiratory failure OMIM:600333
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:36238
Beta-Ketothiolase Deficiency
Pallor, Oral aversion, Dehydration, Edema, Diarrhea, Vomiting ORPHA:134
Skin Fragility-Woolly Hair Syndrome
Palmoplantar hyperkeratosis, Acantholysis OMIM:607655
Surfactant Metabolism Dysfunction, Pulmonary, 3
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Respiratory failu... OMIM:610921
Systemic Sclerosis
Abnormal stomach morphology, Narrow mouth, Abnormality of the gastrointestinal tract, Recurrent s... ORPHA:90291
Cirrhosis, Familial
Esophageal varix, Pulmonary arterial hypertension OMIM:215600
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Diarrhea, Vomiting OMIM:264350
Pallister-Hall-Like Syndrome
Micropenis, Microglossia, Depressed nasal bridge, Median cleft lip, Death in infancy, Cleft palat... OMIM:241800
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent pneumonia, Palmoplantar keratoderma, Recurrent skin infections, Abnormal t... ORPHA:158668
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Dysphagia, Central hypoventilation OMIM:618233
Pai Syndrome
Bifid uvula, Nasal polyposis, Depressed nasal bridge, Midline defect of the nose, Cleft palate, A... ORPHA:1993
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Atopic dermatitis, Pustule, Vomiting ORPHA:171876
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Corneal ulceration, Corneal scarring, Trichiasis, Sparse eyebrow, Nail dystroph... OMIM:148210
Propionic Acidemia
Dehydration, Constipation, Eczema, Vomiting OMIM:606054
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pallor, Hydrops fetalis, Vomiting, Erythema, Chronic diarrhea,... OMIM:557000
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Dysphagia, Dyspnea ORPHA:352447
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Dysphagia OMIM:616867
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Nail dystrophy, Hyperkeratosis, Lip hyperpigmentation, Y... ORPHA:166113
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Interstitial pneumonitis, Tac... OMIM:610913
Respiratory failure, Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Nasal polyposis, Iris coloboma, Median cleft lip OMIM:155145
9q subtelomeric deletion syndrome
Protruding tongue, Anteverted nares, Short nose, Synophrys DECIPHER:52
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration, Diarrhea, Vomiting OMIM:177735
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Pierre-Robin sequence, Underdeveloped nasal alae, Bulbous nose, Thin eyebrow, Agenesis of central... ORPHA:364577
Cholesteryl Ester Storage Disease
Esophageal varix, Pruritus, Diarrhea ORPHA:75234
Corticosterone Methyloxidase Type I Deficiency
Dehydration, Vomiting OMIM:203400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Diarrhea, Vomiting OMIM:560000
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Restrictive ventilatory defect, Dysphagia OMIM:158900
Kindler Epidermolysis Bullosa
Premature loss of primary teeth, Palmoplantar keratoderma, Recurrent skin infections, Atypical sc... ORPHA:2908
Lelis Syndrome
Sparse lateral eyebrow, Hypodontia, Carious teeth, Absent lower eyelashes, Sparse hair, Palmoplan... ORPHA:140936
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Respiratory failure, Cough, Dyspnea, Pallor ORPHA:99931
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Narrow mouth, Premature loss of primary teeth, Abnormality of the gastrointesti... ORPHA:2907
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Bronchogenic Cyst
Abnormal stomach morphology, Pneumonia, Cough, Dyspnea, Atelectasis, Dysphagia, Abnormal esophagu... ORPHA:2357
Intestinal perforation, Nausea, Bloody diarrhea, Peritonitis, Paralytic ileus, Acute colitis, Blo... ORPHA:810
Hyperkeratosis, Pruritus, Dermal atrophy ORPHA:79358
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Esophageal varix, Ascites, Hepatocellular carcinoma OMIM:619463
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Abnormal palate morphology ORPHA:75840
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Short philtrum, Death in infancy, Respiratory failure, Wide mouth ORPHA:1194
Acute Interstitial Pneumonia
Nonproductive cough, Hypoxemia, Crackles, Tachypnea, Respiratory failure, Pleural effusion, Bronc... ORPHA:79126
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Death in infancy OMIM:208085
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Constipation, Polydipsia, Hypertonic dehydration, Vomiting OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Constipation, Polydipsia, Hypertonic dehydration, Vomiting OMIM:304800
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix, Hyperkeratosis, Peau d'o... OMIM:614576
Malignant Atrophic Papulosis
Intestinal perforation, Gastrointestinal hemorrhage, Dermal atrophy, Respiratory failure, Papule,... ORPHA:679
Noonan Syndrome 7
Webbed neck, Impaired oropharyngeal swallow response, Dysphagia, Abnormal esophagus morphology, N... OMIM:613706
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Hypodontia, Microglossia, Upper airway obstruction, Respiratory distress OMIM:612776
Olmsted Syndrome 2
Palmoplantar keratoderma, Pruritus, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, C... OMIM:619208
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Webbed neck, Long philtrum, Triangular nasal tip, Micropenis, Supernumerary nipple, ... OMIM:141750
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Ring Chromosome 22 Syndrome
Wide nasal base, Bulbous nose, Thick eyebrow, Pleural effusion, Lymphedema, Protruding tongue, Ed... ORPHA:1446
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Smooth tongue, Orthokeratosis, Abnormality of primary teeth, Hypodon... OMIM:257980
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Gastrointestinal inflammation, Carious teeth, Localized skin lesion, Esoph... ORPHA:79409
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Everted lower lip vermilion, Sparse eyebrow, Wide nasal bridge, Delayed eruption of ... OMIM:616367
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Dysphagia OMIM:613954
Kindler Syndrome
Oral leukoplakia, Diffuse skin atrophy, Dermal atrophy, Anal stenosis, Palmoplantar hyperkeratosi... OMIM:173650
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration OMIM:256000
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Intestinal malrotation, Respiratory failure, Bronchiectasis... ORPHA:244
Acute Lung Injury
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration, Vomiting OMIM:251000
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Thick eyebrow, Cataract, Depressed nasal bridge, Low anterior hairline, High anterior hairline, H... OMIM:618797
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Colonic stenosis, Peritonitis, Intussusception, Acute co... ORPHA:90038
Achlorhydria, Palmoplantar cutis laxa, Miscarriage, Dehydration, Diarrhea, Vomiting ORPHA:173
Glycogen Storage Disease Iv
Hydrops fetalis, Esophageal varix, Polyhydramnios, Ascites, Edema OMIM:232500
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Broad nasal tip, Cataract, Microglossia, Depressed nasal bridge, Glossopto... OMIM:254940
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Respiratory insufficiency, Glossoptosis, Cleft palate OMIM:618356
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Gastroesophageal reflux, Respiratory failure, Respiratory insuffi... ORPHA:70
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Pallor, Gastrointestinal dysmotility, Constipation, Or... ORPHA:2131
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Respiratory failure, Skin erosion OMIM:617186
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Macroglossia, Cheilitis, Periorbital edema, Furrowed tongue, Edema ORPHA:2483
Early-Onset Familial Hypoaldosteronism
Dehydration, Vomiting ORPHA:556030
Down Syndrome
Narrow mouth, Protruding tongue, Depressed nasal ridge, Open mouth, Cataract, Microdontia, Agangl... ORPHA:870
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Intestinal perforation, Respiratory failure requiring assisted ventilation, Pneumonia, Oral mucos... ORPHA:95455
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Marshall-Smith Syndrome
Generalized hirsutism, Open mouth, Choanal atresia, Short nose, Thin skin, Protruding tongue, Ant... ORPHA:561
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Open mouth, Gastroesophageal reflux, Respiratory failure, Respiratory insufficiency, ... ORPHA:258
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Agel Amyloidosis
Tongue atrophy, Corneal ulceration, Stage 5 chronic kidney disease, Blepharochalasis, Proteinuria... ORPHA:85448
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Non-midline cleft lip, Enamel hypoplasia, Cleft soft palate... ORPHA:2919
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Narrow mouth, Brittle hair, Developmental cataract, Micropenis, Sparse eyebrow, Wide nasal bridge... OMIM:618810
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:454836
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Broad nasal tip, Thick lower lip vermilion, Maxillary lateral i... OMIM:300602
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Abnormal gastric mucosa morphology, Mal... ORPHA:1876
Alacrima, Achalasia, And Mental Retardation Syndrome
Short philtrum, Achalasia, Neonatal respiratory distress, Hyperkeratosis, Dysphagia, Esophageal s... OMIM:615510
Lysosomal Acid Lipase Deficiency
Pruritus, Vomiting, Esophageal varix, Xanthelasma, Xanthomatosis, Ascites, Dehydration, Diarrhea,... ORPHA:275761
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Protruding tongue, Downturned corners of mouth, Smooth philtrum OMIM:618732
Glucose-Galactose Malabsorption
Dehydration, Diarrhea, Vomiting ORPHA:35710
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Narrow palate, Tented upper lip vermilion OMIM:616505
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Hypopigmented skin patches, Glossoptosis, Malabsorption, Skin ulc... ORPHA:47
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure, Widely spaced teeth OMIM:135100
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Nocturnal hypoventilation, Dyspnea, Stridor, Tongue fasciculations, Dysphagia, Re... OMIM:211530
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Abnormal blood gas level ORPHA:70578
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, ... ORPHA:3201
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Decreased peak expiratory flow, Tracheoeso... ORPHA:95430
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Anteverted nares, Polyhydramnios, Lymphedema, Protein-losing enteropathy, Edema, Facial edema OMIM:618154
Amyotrophic Lateral Sclerosis
Abnormal respiratory system physiology, Respiratory failure, Xerostomia, Dyspnea ORPHA:803
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Respiratory insufficiency, Tongue fasciculations OMIM:614678
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Arterial Tortuosity Syndrome
Hiatus hernia, Gastroesophageal reflux, Respiratory failure, Dyspnea, Cardiorespiratory arrest, P... ORPHA:3342
Acrodermatitis Enteropathica
Erythema, Abnormality of the tongue, Cheilitis, Furrowed tongue, Malabsorption, Pustule, Skin ulc... ORPHA:37
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Diarrhea 1, Secretory Chloride, Congenital
Dehydration, Polyhydramnios, Diarrhea OMIM:214700
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Broad nasal tip, Thick lower lip vermilion, Maxillary lateral i... OMIM:300431
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Macroglossia, Respirator... ORPHA:308552
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Long philtrum, Underdeveloped nasal alae, Thin eyebrow, Everted... OMIM:608670
Spinocerebellar Ataxia Type 1
Respiratory failure, Dysphagia ORPHA:98755
Sandestig-Stefanova Syndrome
Oral cleft, High palate, Respiratory failure OMIM:618804
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, A... ORPHA:79402
Orofaciodigital Syndrome Vi
Accessory oral frenulum, High palate, Tongue nodules, Broad nasal tip, Cleft upper lip, Cleft palate OMIM:277170
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, High palate, Pneumonia, Respiratory failure, Tented upper... ORPHA:98905
Hartnup Disease
Hypopigmented skin patches, Malabsorption, Gingivitis, Glossitis, Skin rash ORPHA:2116
Ramos-Arroyo Syndrome
Narrow mouth, Corneal ulceration, Deviated nasal septum, Anteverted nares, Smooth tongue, Long ph... ORPHA:1051
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Bifid uvula, Choanal stenosis, Polyhydramnios, De... ORPHA:1790
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Obstructive sleep apnea, Intercostal muscle weakness OMIM:606071
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... ORPHA:98974
Seckel Syndrome 2
Ectopic kidney, Microdontia, Microglossia, Hypospadias, Prominent nose OMIM:606744
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Morphological abnormality of the gastrointestinal tract, Esophageal neoplas... ORPHA:1018
Erythema, Neoplasm of the liver, Abnormal gastrointestinal motility, Benign gastrointestinal trac... ORPHA:97282
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Absent nares, Aplasia/Hypoplasia of the eyebrow, Aplasia/Hypoplasia involving the n... ORPHA:990
Cowden Syndrome 5
Narrow mouth, High palate, Palmoplantar hyperkeratosis, Colonic diverticula, Hamartomatous polypo... OMIM:615108
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Gastrointestinal inflammation, Constipation, Aplasia cutis congenita, ... ORPHA:79404
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Long philtrum, Respiratory distress OMIM:617895
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Peritonitis, Esophageal varix, Malabsorption, Ascites, Gastrointesti... ORPHA:131
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Mcdonough Syndrome
Short philtrum, Dental malocclusion, Furrowed tongue, Synophrys, Sparse hair, Prominent nose OMIM:248950
3-Hydroxy-3-Methylglutaric Aciduria
Pallor, Episodic vomiting, Dehydration, Edema, Diarrhea ORPHA:20
Raine Syndrome
Narrow mouth, High palate, Enamel hypoplasia, Hydronephrosis, Choanal stenosis, Microdontia, High... OMIM:259775
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Respiratory failure ORPHA:3226
Peripartum Cardiomyopathy
Asthma, Crackles, Paroxysmal dyspnea, Respiratory failure, Dyspnea, Pulmonary arterial hypertensi... ORPHA:563
Wolman Disease
Esophageal varix, Ascites, Steatorrhea ORPHA:75233
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Preauricular pit, Webbed neck, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft har... OMIM:619227
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Respiratory failure, Respiratory insufficiency, Neonatal respiratory distress, Apnea... OMIM:608836
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin sequence, Anteverted nares, Long phil... ORPHA:1358
Wolcott-Rallison Syndrome
Dehydration, Exocrine pancreatic insufficiency, Ascites ORPHA:1667
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Tachypnea, Pleural effusion, Skin rash ORPHA:542323
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Fine hair, Macroglossia, Abnormal eyebrow morpho... ORPHA:2221
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Narrow nose, Hypoplasia of teeth, Dental crowding, Thin ... ORPHA:2457
Renal Hypoplasia
Dehydration, Polydipsia ORPHA:93101
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Webbed neck, Oligohydramnios, Cleft palate, Bifid tongue ORPHA:2167
Faciocardiomelic Dysplasia, Lethal
Microglossia, Neonatal death, Narrow mouth OMIM:227270
Congenital Sialidosis Type 2
Developmental cataract, Cataract, Corneal opacity, Ascites, Protruding tongue, Edema, Generalized... ORPHA:93400
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency OMIM:310200
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Bulbous nose, Microdontia, Supernumerary tooth, Bifid tongue OMIM:258850
Cowden Syndrome 6
Narrow mouth, High palate, Palmoplantar hyperkeratosis, Colonic diverticula, Hamartomatous polypo... OMIM:615109
Trisomy 8Q
High palate, Non-midline cleft lip, Everted lower lip vermilion, Wide nasal bridge, Hypoplasia of... ORPHA:1752
Methylmalonic Aciduria, Cblb Type
Dehydration, Vomiting OMIM:251110
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Nail dystrophy, Hamartomatous polyposis, Malabsorption, Protein-losing enteropathy, Alo... OMIM:175500
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wid... OMIM:618779
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the ureter, Neoplasm of the nose, Abnormality of the nose, Ne... ORPHA:2869
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Wide nasal bridge, Pleural effusion, Palpebral edema, Chy... OMIM:265300
Methylmalonic Aciduria, Cbla Type
Dehydration, Vomiting OMIM:251100
Bloom Syndrome
Esophageal neoplasm, Pneumonia, Gastroesophageal reflux, Respiratory failure, Neoplasm of the col... ORPHA:125
Hepatoportal Sclerosis
Pruritus, Gastrointestinal hemorrhage, Esophageal varix, Ascites, Gastric varix, Hepatocellular c... ORPHA:64743
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Protruding tongue, Long eyelashes, Macrodontia, Thick eyebrow, Open mouth,... OMIM:212066
Adams-Oliver Syndrome 6
Esophageal varix, Aplasia cutis congenita of scalp OMIM:616589
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Open mouth, Everted lower lip vermilion, Microdont... ORPHA:570
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion, High, narrow palate, Dyspnea, Respiratory dis... ORPHA:3015
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Geleophysic Dysplasia 3
Pneumonia, Long philtrum, Sleep apnea, Respiratory failure, Dyspnea, Thick vermilion border OMIM:617809
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... ORPHA:44890
Robinow Syndrome, Autosomal Dominant 3
Webbed neck, Dental malocclusion, Agenesis of permanent teeth, Long philtrum, Gingival overgrowth... OMIM:616894
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Renal Dysplasia-Limb Defects Syndrome
Narrow mouth, High palate, Respiratory failure, Pneumothorax, Respiratory distress, Neonatal deat... OMIM:266910
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Sparse eyebrow, Hypospadias, Sparse eyelashes, Bilateral cleft li... OMIM:618874
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Open mouth, Respiratory failure, Exaggerated cupid's bow, Macroglossia, Redundant neck skin ORPHA:254528
Brain-Lung-Thyroid Syndrome
Webbed neck, Recurrent pneumonia, Asthma, Hypodontia, Respiratory failure, Pulmonary arterial hyp... ORPHA:209905
Aplasia Cutis Congenita
Congenital localized absence of skin, Skin ulcer, Aplasia cutis congenita over the scalp vertex ORPHA:1114
Microcephaly 26, Primary, Autosomal Dominant
Prominent eyelashes, Long philtrum, Hydronephrosis, Wide nasal bridge, Short nose, Prominent nasa... OMIM:619179
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Proteinuria, Renal hypoplasia, Microdontia, Microglossia, Prominent na... ORPHA:1307
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Broad nasal tip, Lobulated tongue, Agenesis... OMIM:252100
Cowden Syndrome 1
Narrow mouth, High palate, Palmoplantar hyperkeratosis, Colonic diverticula, Acrokeratosis, Hamar... OMIM:158350
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Adams-Oliver Syndrome 5
Esophageal varix, Pulmonary arterial hypertension, Cutis marmorata telangiectatica congenita, Apl... OMIM:616028
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Respiratory failure, Dyspnea, Cardiorespiratory arrest, Dysphagia ORPHA:26791
Triosephosphate Isomerase Deficiency
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness, Resp... OMIM:615512
Developmental And Epileptic Encephalopathy 80
High palate, Increased urine alpha-ketoglutarate concentration, Long philtrum, Tented upper lip v... OMIM:618580
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Barrett Esophagus
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Naxos Disease
Palmoplantar keratoderma, Acantholysis OMIM:601214
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Microglossia, Polyhydramnios, Wide nose, Cleft palate OMIM:202650
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Palmoplantar keratoderma, Recurrent skin infections, Smooth tongue, Oral mucosal blisters, Enamel... ORPHA:79396
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Diarrhea, Vomiting ORPHA:230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Depressed nasal bridge, Malabsorption, Protruding tongue, Anteverted nares, Short nose OMIM:242860
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Pearson Syndrome
Exocrine pancreatic insufficiency, Hydrops fetalis, Chronic diarrhea, Corneal stromal edema, Dysp... ORPHA:699
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Ectopia lentis, Recurrent bronchitis OMIM:604571
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Esophageal varix, Gastrointestinal hemorrhage OMIM:617341
Tarp Syndrome
Tongue nodules, High palate, Horseshoe kidney, Hydronephrosis, Wide nasal bridge, Glossoptosis, A... OMIM:311900
Dehydration, Polydipsia ORPHA:2260
Dend Syndrome
Dehydration, Vomiting ORPHA:79134
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:613845
Orofaciodigital Syndrome I
Underdeveloped nasal alae, Proteinuria, Hamartoma of tongue, Polycystic kidney dysplasia, Cleft p... OMIM:311200
Infantile Nephropathic Cystinosis
Dehydration, Constipation, Polydipsia, Vomiting ORPHA:411629
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Colchicine Poisoning
Dehydration, Nausea, Diarrhea, Vomiting ORPHA:31824
Nephrogenic Diabetes Insipidus
Constipation, Polydipsia, Polyhydramnios, Hypernatremic dehydration ORPHA:223
Orofaciodigital Syndrome Type 1
Brittle hair, Coarse hair, Open bite, Proteinuria, Underdeveloped nasal alae, Hydronephrosis, Ham... ORPHA:2750
Kleefstra Syndrome 1
Anteverted nares, Micropenis, Everted lower lip vermilion, U-Shaped upper lip vermilion, Macroglo... OMIM:610253
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Immunodeficiency 23
High palate, Asthma, Molluscum contagiosum, Erythema, Bronchiectasis, Eczema, Esophageal strictur... OMIM:615816
Tetraamelia Syndrome 2
Micropenis, Glossoptosis, Bilateral cleft lip, Ankyloglossia OMIM:618021
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Atopic dermatitis ORPHA:3240
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal respiratory system physiology, Carious teeth, Glossoptosis, Laryngotracheomalacia ORPHA:93346
Neuroleptic Malignant Syndrome
Dehydration, Nausea, Dysphagia, Vomiting ORPHA:94093
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Underdeveloped nasal alae, Multicystic kidney dysplasia, Glossoptosis, Anteverted nar... ORPHA:2031
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Decreased corneal thickness, Keratoconus, Dentinogenesi... OMIM:229200
Infantile Krabbe Disease
Gastroesophageal reflux, Respiratory failure, Hypopigmented skin patches, Respiratory distress ORPHA:206436
Leigh Syndrome With Cardiomyopathy
Respiratory failure, Dysphagia, Respiratory distress, Apnea, Central hypoventilation ORPHA:70474
Pitt-Hopkins-Like Syndrome 2
Drooling, Gastroesophageal reflux, Hyperventilation, Protruding tongue, Wide mouth OMIM:614325
Severe Congenital Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171430
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory failure, Impaired mastication, Macroglossia, Atelectasis, Exertional dys... ORPHA:365
Basel-Vanagaite-Smirin-Yosef Syndrome
Short philtrum, Developmental cataract, Anteverted nares, Microcornea, Hydronephrosis, Sparse eye... ORPHA:464738
S-Adenosylhomocysteine Hydrolase Deficiency
Hepatocellular carcinoma, Respiratory failure, Abnormality of the dentition ORPHA:88618
Orofaciodigital Syndrome V
High palate, Bifid uvula, Horseshoe kidney, Lobulated tongue, Hypodontia, Aganglionic megacolon, ... OMIM:174300
Autosomal Recessive Robinow Syndrome
Long philtrum, Open bite, Hydronephrosis, Tented upper lip vermilion, Exaggerated cupid's bow, Mu... ORPHA:1507
Nausea, Intermittent diarrhea, Peritonitis, Chronic diarrhea, Skin nodule, Dehydration, Glossitis... ORPHA:2552
Treacher-Collins Syndrome
Open bite, Cleft palate, Narrow mouth, High palate, Rectovaginal fistula, Cleft upper lip, Catara... ORPHA:861
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Fanconi Anemia, Complementation Group L
Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Cafe-au-lait spot, Cleft palate OMIM:614083
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Nausea, Constipation, Zollinger-Ellison syndrome, Gastroesophageal reflux, ... ORPHA:652
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Aplasia cutis congenita, Esophageal varix, Ascites, Aplasia/Hypoplas... ORPHA:974
Orofaciodigital Syndrome Type 3
Bifid uvula, Bulbous nose, Lobulated tongue, Hamartoma of tongue, Irregular dentition, Abnormalit... ORPHA:2752
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Rectal prolapse, Meconium ileus, Dehydration, Diarrhea,... OMIM:219700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Everted lower lip vermilion, Depressed nasal bridge, Prominent nasal bridge, Smooth... ORPHA:324410
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exertion, ... ORPHA:60025
Distal Renal Tubular Acidosis
Constipation, Polydipsia, Dehydration, Diarrhea, Vomiting ORPHA:18
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration, Vomiting ORPHA:90791
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
High palate, Patchy alopecia, Recurrent upper respiratory tract infections, Micropenis, Thick eye... OMIM:300534
Septo-Optic Dysplasia Spectrum
Dry skin, Constipation, Tracheoesophageal fistula, Esophageal atresia, Polydipsia, Cleft palate ORPHA:3157
Methimazole Embryofetopathy
Polyhydramnios, Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Rabson-Mendenhall Syndrome
Premature graying of hair, High palate, Nephrocalcinosis, Anteverted nares, Long penis, Macroglos... ORPHA:769
Hallermann-Streiff Syndrome
Narrow mouth, Developmental cataract, Underdeveloped nasal alae, Sparse eyebrow, Supernumerary to... ORPHA:2108
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Widely spaced teeth, Res... ORPHA:496641
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Widely spaced teeth, Iris hypopigmentation, Protruding tongue, Wide mouth ORPHA:98795
Cowden Syndrome
Colorectal polyposis, High palate, Generalized hyperkeratosis, Palmoplantar keratoderma, Hypopigm... ORPHA:201
Arthrogryposis, Distal, Type 5D
Bulbous nose, Highly arched eyebrow, Furrowed tongue, Anteverted nares, Cleft palate OMIM:615065
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Wide nasal ridge, Abnormal tongue morphology, Downturned corners of mouth ORPHA:531151
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Respiratory failure, Erythema, Re... ORPHA:420741
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Constipation, Gastroesophageal reflux, Skin ulcer, Malabsorption, Dehy... ORPHA:534
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Depressed nasal bridge, Polyhydramnios, Glossoptosis, Anteverted nares, Cleft palate ORPHA:1427
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dehydration, Hydrops fetalis, Stomatitis, Glossitis ORPHA:79282
Otopalatodigital Syndrome, Type Ii
Narrow mouth, Respiratory failure, Respiratory insufficiency, Cleft palate, Stillbirth OMIM:304120
Proximal Renal Tubular Acidosis
Polydipsia, Malabsorption, Dehydration, Diarrhea, Vomiting ORPHA:47159
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Esophageal stricture, Palmoplantar hyperkeratosis OMIM:613989
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Short philtrum, Long eyelashes, Macrodontia, Thick eyebrow, Abn... ORPHA:193
Stuve-Wiedemann Syndrome 1
Smooth tongue, Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal dental enamel... OMIM:601559
Okamoto Syndrome
Exaggerated median tongue furrow, Open bite, Unilateral renal hypoplasia, Underdeveloped nasal al... ORPHA:2729
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Drooling, Widely spaced teeth, Iris hypopigmentation, Protruding tongue... ORPHA:411511
Marburg Hemorrhagic Fever
Nausea, Abnormality of the gastrointestinal tract, Bloody diarrhea, Petechiae, Maculopapular exan... ORPHA:99826
Congenital Fiber-Type Disproportion Myopathy
High palate, Hypoxemia, Hypercapnia, Respiratory failure, Impaired mastication, Respiratory insuf... ORPHA:2020
Orofaciodigital Syndrome Iv
Tongue nodules, High palate, Accessory oral frenulum, Lobulated tongue, Hamartoma of tongue, Clef... OMIM:258860
Contractures-Developmental Delay-Pierre Robin Syndrome
Underdeveloped nasal alae, Hypospadias, High, narrow palate, Glossoptosis, Cleft palate, Abnormal... ORPHA:436003
Juvenile Sialidosis Type 2
Cataract, Corneal opacity, Protruding tongue, Generalized hypertrichosis, Gingival overgrowth ORPHA:93399
Costello Syndrome
High palate, Webbed neck, Tracheomalacia, Respiratory failure, Thick lower lip vermilion, Macrogl... OMIM:218040
Emphysema, Nonproductive cough, Pneumonia, Cutaneous abscess, Respiratory failure, Pleural effusi... ORPHA:31204
Paralytic ileus, Respiratory failure requiring assisted ventilation, Dysphagia, Respiratory failure ORPHA:2912
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Upper airway obstruction, Glossoptosis, Cleft palate ORPHA:440354
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Angelman Syndrome
Fair hair, Drooling, Widely spaced teeth, Blue irides, Macroglossia, Protruding tongue, Wide mouth OMIM:105830
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Everted lower lip vermilion, Hypoplasia of penis, Highly arched eyebrow, Mac... ORPHA:96147
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Nasal polyposis, Chronic rhinitis, Recurrent bronc... OMIM:242680
Cleidocranial Dysplasia
Delayed eruption of teeth, Open bite, Dystrophic toenail, Carious teeth, Supernumerary tooth, Hig... ORPHA:1452
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Esophageal varix, Respiratory insufficiency, Respiratory distress ORPHA:367
Cerebrocostomandibular Syndrome
Webbed neck, Tracheomalacia, Short hard palate, Glossoptosis, Neonatal respiratory distress, Deat... ORPHA:1393
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth, Gingival overgrowth OMIM:259720
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Macroglossia, Protruding tongue, Anteverted nares, Cleft palate OMIM:612938
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Anteverted nares, Renal cortical microcysts, Hydronephrosis, Cataract, High, narrow ... OMIM:214100
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Micropenis, Hydronephrosis, U-Shaped upper lip vermilion, Thick lower lip vermilion, Macroglossia... OMIM:301040
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis OMIM:277320
Dyskeratosis Congenita, Autosomal Dominant 6
Oral leukoplakia, Abnormality of the dentition, Esophageal stenosis OMIM:616553
Chand Syndrome
Hydroureter, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Depressed nasal brid... ORPHA:1401
Otopalatodigital Syndrome Type 2
Narrow mouth, Pierre-Robin sequence, Developmental glaucoma, Oligodontia, Cataract, Hydronephrosi... ORPHA:90652
Robinow Syndrome
Broad nasal tip, Long philtrum, Hydronephrosis, Multicystic kidney dysplasia, Webbed penis, Short... ORPHA:97360
Widow's peak, Cataract, Cleft palate, Midline nasal groove, Iris coloboma, Bifid tongue ORPHA:391474
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Wide nose, Hydronephrosis, Low anterior hairline, Smooth philtrum, Hypertrichosis, ... OMIM:608779
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Erythema nodosum, Esophageal varix, Recurrent sinusitis, Eczema, Oral ulcer, Aphthous ulcer, Skin... OMIM:615688