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Gene: Itgb4 MGI:96613

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin beta 4
Synonyms:
CD104

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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 predicted to be associated to Itgb4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Milia, Multiple Eruptive
Milia OMIM:157400
Nevus Comedonicus
Nevus comedonicus OMIM:617025
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
Dyschromatosis Universalis Hereditaria 3
Hypopigmented macule, Hypermelanotic macule OMIM:615402
Nevus, Epidermal
Melanocytic nevus, Numerous nevi OMIM:162900
Syringocystadenoma Papilliferum
Papule, Nevus sebaceous, Subcutaneous nodule ORPHA:840
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Pruritis on breast, Urticarial plaq... ORPHA:64745
Darier Disease
Plantar pits, Palmoplantar keratoderma, Hypermelanotic macule, Subungual hyperkeratotic fragments... ORPHA:218
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous pl... 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
Hyperkeratotic papule, Localized skin lesion, Carious teeth, Atypical scarring of skin, Keloids, ... ORPHA:79410
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle ORPHA:2841
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Iga Pemphigus
Annular cutaneous lesion, Skin erosion, Cutaneous abscess, Neutrophilic infiltration of the skin,... ORPHA:555905
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Dowling-Degos Disease
Hyperkeratotic papule, Palmar pits, Erythematous papule, Acne inversa, Epidermoid cyst, Hypermela... ORPHA:79145
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Skin vesicle, Pruritus, Hyperkeratosis ORPHA:254478
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Protracted diarrhea, Villous atrophy, Death in infancy, Abnormal intestine morphology, Dehydration OMIM:251850
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Skin vesicle, Erythema migrans ORPHA:158681
Wells Syndrome
Skin vesicle ORPHA:901
Familial Reactive Perforating Collagenosis
Abnormal oral mucosa morphology, Hyperkeratotic papule, Inflammatory abnormality of the skin, Ery... ORPHA:79147
Warty Dyskeratoma
Localized skin lesion, Erythematous papule, Oral mucosa nodule, Abnormal hard palate morphology, ... ORPHA:69745
Dermatitis Herpetiformis
Dental enamel pits, Erythema, Eczematoid dermatitis, Delayed eruption of teeth, Erosion of oral m... ORPHA:1656
Pierre Robin Syndrome
Neonatal respiratory distress, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Hypopigmented skin patches, Focal dermal aplasia/hypoplasia,... ORPHA:79480
Darier-White Disease
Palmar pits, Plantar pits, Hypermelanotic macule, Enlargement of parotid gland, Subungual hyperke... OMIM:124200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Abnormality of the dentition, Papule, Hypermelanotic macule, Milia, Hypomelanotic macule, Oral mu... ORPHA:79399
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltration, Skin ves... ORPHA:293173
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis ORPHA:735
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Pyoderma Gangrenosum
Atrophic scars, Papule, Skin vesicle, Skin ulcer ORPHA:48104
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle ORPHA:257
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Glossoptosis, Cleft palate ORPHA:718
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Hypotrichosis And Recurrent Skin Vesicles
Abnormality of the dentition, Angular cheilitis, Follicular hyperkeratosis, Skin vesicle OMIM:613102
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Acrokeratosis Verruciformis
Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis OMIM:101900
Chronic Hiccup
Abnormal eating behavior, Dehydration ORPHA:396
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Oral leukoplakia, Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar h... OMIM:616295
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Secretory diarrhea, Pustule, Polyhydramnios, Papule, Dehydration OMIM:616069
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormality of the dentition, Papule, Eczematoid dermatitis, Delayed eruption of teeth, Skin ulce... ORPHA:2314
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis, Palmoplantar keratoderma, Thin skin ORPHA:455
Pontocerebellar Hypoplasia, Type 1C
Tongue fasciculations, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Dehydration OMIM:610370
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue OMIM:155900
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Lipoid Proteinosis
Abnormal oral mucosa morphology, Acne, Microglossia, Thick lower lip vermilion, Pustule, Subcutan... ORPHA:530
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Dehydration OMIM:614265
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous dermatitis, Palmoplan... ORPHA:158673
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Hennekam-Beemer Syndrome
Erythema, Papule, Respiratory insufficiency, Thick lower lip vermilion, Skin vesicle, Subcutaneou... ORPHA:2135
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Papule, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus ORPHA:2337
Familial Cold Urticaria
Erythema, Pruritus, Polydipsia, Dehydration ORPHA:47045
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Respiratory failure, Tongue atrophy, Dysphagia OMIM:613435
Reticular Dysgenesis
Skin rash, Diarrhea, Skin ulcer, Dehydration ORPHA:33355
Epidermolysis Bullosa, Lethal Acantholytic
Skin erosion, Natal tooth, Neonatal death, Aplasia cutis congenita, Acantholysis OMIM:609638
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Pruritus, Hyperkeratosis OMIM:131850
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Gastroesophageal reflux, Respiratory insufficiency, High palate, Dysphagia... OMIM:614399
Pemphigus Vulgaris
Atypical scarring of skin, Urticarial plaque, Erosion of oral mucosa, Oral mucosal blisters, Acan... ORPHA:704
Dyskeratosis Congenita
Abnormality of the dentition, Carious teeth, Periodontitis, Oral leukoplakia, Palmoplantar kerato... ORPHA:1775
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic m... ORPHA:95427
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal dental morphology, Erythematous plaque, Superficial dermal perivascular inflammatory inf... OMIM:618531
Sweet Syndrome
Inflammation of the large intestine, Erythematous papule, Acne inversa, Predominantly dermal neut... ORPHA:3243
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Dehydration ORPHA:313
Porphyria Variegata
Localized skin lesion, Skin erosion, Milia, Ileus, Skin vesicle, Constipation, Nausea, Hepatocell... ORPHA:79473
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis OMIM:617571
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita of scalp, Congenital pyloric atresia, Oral mucosal blisters, Neonatal dea... OMIM:619817
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Central Diabetes Insipidus
Diarrhea, Polydipsia, Dehydration, Anorexia ORPHA:178029
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:79159
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia, Diarrhea, Edema, Dehydration ORPHA:103910
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Tooth agenesis, Palmoplantar scaling skin, Death in early adulthood, De... OMIM:605676
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Lethal Osteosclerotic Bone Dysplasia
Gingival fibromatosis, Gingival overgrowth, Median cleft palate, Respiratory failure ORPHA:1832
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Hyperkeratosis Lenticularis Perstans
Papule, Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus ORPHA:409
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Neoplasm of the oral cavity, Dermal atrophy, Abnormal int... ORPHA:525
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Respiratory failure OMIM:600561
Congenital Myopathy 14
High palate, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, High palate, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Respiratory failure, Respiratory insufficiency ORPHA:266
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Amyotrophic Lateral Sclerosis 28
Dysphagia, Respiratory failure OMIM:620452
Pityriasis Rubra Pilaris
Papule, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Pustule, Abnor... ORPHA:2897
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Psoriasiform dermatitis, Eosinophilic infiltration of t... OMIM:615508
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Vomiting, Dehydration, Neonatal death OMIM:602199
Pontocerebellar Hypoplasia, Type 4
Dysphagia, Respiratory failure, Death in infancy OMIM:225753
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Dehydration OMIM:618958
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabscess formation in the ... ORPHA:411696
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Glossoptosis, Death in infancy OMIM:614876
Harlequin Ichthyosis
Self-injurious behavior, Hyperkeratosis, Erythroderma, Dehydration ORPHA:457
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, Dysphagia, Respiratory failure OMIM:618637
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Palmoplantar keratoderma OMIM:620415
Chronic Graft Versus Host Disease
Erythema, Gastroesophageal reflux, Xerostomia, Diarrhea, Skin ulcer, Ascites, Abnormal esophagus ... ORPHA:99921
Psoriasis 14, Pustular
Erythema, Furrowed tongue, Psoriasiform dermatitis, Pustule, Parakeratosis, Geographic tongue OMIM:614204
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Dehydration ORPHA:289504
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abnormal small intestinal villus morphology, Pruritus, Dehydration ORPHA:2290
Chikungunya
Facial edema, Erythema, Vomiting, Diarrhea, Joint swelling, Petechiae, Skin rash, Crusting erythe... ORPHA:324625
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... ORPHA:92050
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Hyperekplexia 4
High palate, Respiratory failure OMIM:618011
Enteric Anendocrinosis
Vomiting, Diarrhea, Dehydration ORPHA:83620
Vulvovaginal Gingival Syndrome
Erythema, Skin erosion, Oral ulcer, Parakeratosis, Gingivitis, Pruritus ORPHA:83453
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Furrowed tongue, Gingival overgrowth, Hematuria, Tracheoesophageal... ORPHA:1839
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency ORPHA:370968
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Hyperkeratosi... OMIM:616029
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:90117
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Leukocyte Adhesion Deficiency Type Ii
Gingival overgrowth, Protruding tongue, Recurrent gastroenteritis, Skin vesicle, Deep philtrum, L... ORPHA:99843
Immunodeficiency 95
Respiratory failure OMIM:619773
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Respiratory insufficiency, Thick vermilion border, Gingival overgrowth, ... OMIM:618186
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, As... OMIM:253250
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Ventilator dependenc... ORPHA:254875
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Intermediate Nemaline Myopathy
High, narrow palate, Dysphagia, Respiratory failure, Long philtrum ORPHA:171433
Boutonneuse Fever
Skin rash, Petechiae, Macule, Skin nodule, Maculopapular exanthema, Skin detachment, Respiratory ... ORPHA:83313
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles ORPHA:137599
Plummer-Vinson Syndrome
Narrow mouth, Pallor, Intra-oral hyperpigmentation, Esophageal web, Dysphagia, Glossitis, Cheilit... ORPHA:54028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Dysphagia, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:2590
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Vomiting, Diarrhea, Death in childhood, Death in adolescence, Dehydration OMIM:560000
Autosomal Agammaglobulinemia
Diarrhea, Skin rash, High palate, Recurrent skin infections, Dehydration ORPHA:33110
Vacterl Association With Hydrocephalus
Anal atresia, Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Palmoplan... OMIM:620507
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
Solar Urticaria
Abnormal lip morphology, Angioedema, Abnormal tongue morphology, Periorbital edema, Edema ORPHA:97230
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Edema, Dehydration, Pallor, Oral aversion, Anorexia, Agitation ORPHA:134
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure OMIM:619057
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Atypical scarring of skin, Gastroesophageal reflux, Carious teeth, Skin erosion, Nevus, Anal fiss... ORPHA:89842
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Anorexia ORPHA:79312
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Atrophic scars, Milia, Congenital pyloric atresia, Death in infancy, Esopha... OMIM:226730
Netherton Syndrome
Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Recurrent infection of the gastroin... OMIM:256500
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Lymphedema, Furrowed tongue, Stomach ca... ORPHA:2930
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Dehydration OMIM:251120
Lethal Acantholytic Erosive Disorder
Acantholysis, Natal tooth, Respiratory failure, Cleft palate ORPHA:158687
Cataract-Intellectual Disability-Hypogonadism Syndrome
Depressed nasal bridge, Tooth malposition, Cataract, Furrowed tongue, Low posterior hairline, Sho... ORPHA:1387
Netherton Syndrome
Eczematoid dermatitis, Dry skin, Skin rash, Erythroderma, Dehydration ORPHA:634
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Glossoptosis, Cleft palate ORPHA:3104
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Orofaciodigital Syndrome Xv
Wide nasal bridge, Midline notch of upper alveolar ridge, Anteverted nares, Hydronephrosis, Lobul... OMIM:617127
Cerebrooculofacioskeletal Syndrome 1
Death in childhood, Dehydration OMIM:214150
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Esophageal stricture, Atrophic scars, Milia, Abnormal esophagus morphology, Constipation, Dysphag... OMIM:226600
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... OMIM:620014
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Furrowed tongue, Corneal scarring, Nail ... OMIM:148210
Orofaciodigital Syndrome Xix
Wide nasal bridge, Bifid nasal tip, Narrow palate, Carious teeth, Downturned corners of mouth, Un... OMIM:620107
Snakebite Envenomation
Gingival bleeding, Erythema, Localized skin lesion, Neuromuscular dysphagia, Pseudobulbar paralys... ORPHA:449285
Familial Renal Glucosuria
Dehydration ORPHA:69076
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory failure, Respiratory insufficiency OMIM:615330
Hypercalcemia, Infantile, 1
Vomiting, Dehydration OMIM:143880
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy, Edema OMIM:610158
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... OMIM:614669
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Dehydration OMIM:602722
Pai Syndrome
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up... ORPHA:1993
Catel-Manzke Syndrome
Highly arched eyebrow, Oral synechia, Glossoptosis, Cleft palate ORPHA:1388
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Cleft palate OMIM:620457
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Preauricular skin tag, Abnormal lip morphology, Abnormal upper lip morpholog... ORPHA:2707
Propionic Acidemia
Vomiting, Eczematoid dermatitis, Dehydration, Constipation OMIM:606054
Isovaleric Acidemia
Vomiting, Dehydration OMIM:243500
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Dysphagia, Respiratory failure OMIM:616867
Osteootohepatoenteric Syndrome
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Ileoileal intussusception... OMIM:619377
Deafness-Craniofacial Syndrome
Wide nasal bridge, Abnormality of the dentition, Underdeveloped nasal alae, Short lingual frenulu... ORPHA:3241
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, Nasal polyposis, Median cleft upper lip, High palate, Iris coloboma OMIM:155145
Shigellosis
Vomiting, Ulcerative colitis, Anorexia, Bloody diarrhea, Paralytic ileus, Peritonitis, Intestinal... ORPHA:810
Tylosis With Esophageal Cancer
Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ... OMIM:148500
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Underdeveloped nasal alae, Long philtrum, Prominent nasal bri... OMIM:277720
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Dehydration OMIM:212140
Cystinosis
Polydipsia, Vomiting, Motor stereotypy, Dehydration ORPHA:213
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Vomiting, Dehydration OMIM:264350
Pearson Marrow-Pancreas Syndrome
Erythema, Vomiting, Exocrine pancreatic insufficiency, Villous atrophy, Pallor, Death in childhoo... OMIM:557000
Bazex-Dupre-Christol Syndrome
Atopic dermatitis, Acne inversa, Eczematoid dermatitis, Nevus, Furrowed tongue, Milia OMIM:301845
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Respiratory failure ORPHA:79327
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Pallor, Impulsivity, Gastrointestinal dysmotility,... ORPHA:2131
Myasthenic Syndrome, Congenital, 10
Tongue atrophy, Respiratory insufficiency due to muscle weakness OMIM:254300
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysp... OMIM:147060
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Hartnup Disorder
Glossitis, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria OMIM:234500
Burning Mouth Syndrome
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... ORPHA:353253
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Respiratory failure, Abnormality of the philtrum, Aplasia/Hypoplasia of ... ORPHA:2759
Pachyonychia Congenita 3
Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Follicular hyperkeratos... OMIM:615726
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Vomiting, Dehydration ORPHA:171876
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Tongue atrophy, Poliosis, Short ... OMIM:141300
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Dehydration OMIM:620126
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Neonatal death, Esophageal varix, Hematemesis, Dehydration OMIM:263200
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ... OMIM:613443
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Toxic Epidermal Necrolysis
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Tracheoesophageal fistula, Macule, Acantholysi... ORPHA:537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Dysphagia, Respiratory failure OMIM:606612
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Glucose/Galactose Malabsorption
Chronic diarrhea, Hypertonic dehydration OMIM:606824
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Bulbous nose, Anteverted nares, Open mouth, Thin upper lip vermilion, High pal... OMIM:613604
Bazex Syndrome
Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Parakeratosis, Hyp... ORPHA:166113
Ullrich Congenital Muscular Dystrophy
Respiratory failure, Abnormal palate morphology ORPHA:75840
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Dehydration OMIM:177735
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Gastroesophageal reflux, Dysphagia, Respiratory failure ORPHA:70472
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Dehydration OMIM:203400
9q subtelomeric deletion syndrome
Anteverted nares, Protruding tongue, Short nose, Synophrys DECIPHER:52
Cholesteryl Ester Storage Disease
Pruritus, Diarrhea, Esophageal varix ORPHA:75234
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Long philtrum OMIM:312170
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respirat... OMIM:614922
Portal Hypertension, Noncirrhotic, 2
Ascites, Petechiae, Ecchymosis, Esophageal varix, Hepatocellular carcinoma OMIM:619463
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Underdeveloped nasal alae, Thin eyebrow, Bulbous nose, Oligo... ORPHA:364577
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Erythema, Xerostomia, Oral leukoplakia, Eczemato... ORPHA:2907
Scedosporiosis
Abnormal jejunum morphology, Subcutaneous nodule, Unusual skin infection, Respiratory failure ORPHA:449280
Kindler Epidermolysis Bullosa
Erythema, Inflammation of the large intestine, Carious teeth, Periodontitis, Palmoplantar keratod... ORPHA:2908
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Palmoplantar keratoderma, Chapp... ORPHA:158668
Pontocerebellar Hypoplasia Type 1
Tongue fasciculations, Respiratory failure ORPHA:2254
Noonan Syndrome 7
Webbed neck, Abnormal esophagus morphology, Thick vermilion border, Dysphagia, Impaired oropharyn... OMIM:613706
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Recessive Dystrophic Epidermolysis Bullosa Inversa
Localized skin lesion, Carious teeth, Atrophic scars, Milia, Oral mucosal blisters, Gastrointesti... ORPHA:79409
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Polydipsia, Hypertonic dehydration, Constipation OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Polydipsia, Hypertonic dehydration, Constipation OMIM:304800
Cholera
Vomiting, Diarrhea, Palmoplantar cutis laxa, Achlorhydria, Dehydration, Miscarriage ORPHA:173
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Pallor, Death in childhood, Episodic vomiting, Dehydration OMIM:246450
Stevens-Johnson Syndrome
Erythema, Gastrointestinal hemorrhage, Macule, Acantholysis, Dysphagia, Esophageal stricture ORPHA:36426
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Short philtrum, Wide mouth, Respiratory failure, Death in infancy ORPHA:1194
Lelis Syndrome
Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Hypodontia,... ORPHA:140936
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Kindler Syndrome
Diffuse skin atrophy, Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Dermal atrop... OMIM:173650
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Dry skin, Death in infancy, Esophageal varix, Chronic diarrh... OMIM:614576
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Widely spa... OMIM:257980
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Preauricular skin tag, Dental malocclusion, Dental crowding, Narrow m... OMIM:602483
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Dehydration, Bloody diarrhea, Rectal prolapse, Peritonitis, Colonic stenosis,... ORPHA:90038
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dysphagia, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Dysphagia, Respiratory failure OMIM:613954
Early-Onset Familial Hypoaldosteronism
Vomiting, Dehydration ORPHA:556030
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Edema, Pallor, Episodic vomiting, Anorexia, Dehydration ORPHA:20
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Osmotic diarrhea, Dehydration ORPHA:35710
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Narrow palate, Tented upper lip vermilion, Respiratory failure OMIM:616505
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Secretory diarrhea, Dehydration, Elevated stool chloride content OMIM:214700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Dehydration, Death in infancy OMIM:208085
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure OMIM:620296
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Alopecia, Dental crowding, Hydroureter, Delayed eruption of primary teeth, Spa... OMIM:616367
Ring Chromosome 22 Syndrome
Wide nasal base, Lymphedema, Bulbous nose, Thick eyebrow, Pleural effusion, Protruding tongue, Th... ORPHA:1446
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:605711
Lysosomal Acid Lipase Deficiency
Diarrhea, Vomiting, Ascites, Xanthelasma, Xanthomatosis, Esophageal varix, Steatorrhea, Pruritus,... ORPHA:275761
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Diarrhea, Dehydration OMIM:251000
Congenital Myopathy 10B, Mild Variant
High palate, Dysphagia, Respiratory failure, Cleft palate OMIM:620249
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Downturned corners of mouth, Achalasia, Hyperkeratosis, Short phil... OMIM:615510
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Dermal atrophy, Pa... ORPHA:679
Mucoepithelial Dysplasia, Hereditary
Cataract, Alopecia, Coarse hair, Erythematous oral mucosa, Furrowed tongue, Opacification of the ... OMIM:158310
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Death in infancy, Median cleft upper lip, Short nose, Micro... OMIM:241800
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Agel Amyloidosis
Cataract, Xerostomia, Blepharochalasis, Stage 5 chronic kidney disease, Nail dystrophy, Proteinur... ORPHA:85448
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
Postsynaptic Congenital Myasthenic Syndromes
High palate, Respiratory failure ORPHA:98913
Sandestig-Stefanova Syndrome
High palate, Orofacial cleft, Respiratory failure OMIM:618804
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Anteverted nares, P... OMIM:300602
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Predominantly lower limb lymphedema, Abnormality of th... OMIM:607823
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Crossed fused renal ectopia, Cleft soft pal... ORPHA:2919
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Gastroesophageal reflux, Skin tags, Redundant skin, Neonatal death, Palmoplantar cutis laxa, Resp... OMIM:616482
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Furrowed tongue, Periorbital edema, Macroglossia, Cheilitis, Edema ORPHA:2483
Glycogen Storage Disease Iv
Ascites, Esophageal varix, Polyhydramnios, Hydrops fetalis, Edema OMIM:232500
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Depressed nasal bridge, High anterior hairline, Cataract, Horizontal eyebrow, Anteverted nares, T... OMIM:618797
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Naxos Disease
Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Acanthol... OMIM:601214
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death in infancy, ... ORPHA:1790
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Long philtrum, Cleft palate ORPHA:166100
Ramos-Arroyo Syndrome
Depressed nasal bridge, High anterior hairline, Carious teeth, Xerostomia, Smooth tongue, Long ph... ORPHA:1051
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Dehydration OMIM:615453
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Everted lower lip vermilion, High palate, Pierre-Robin sequence... OMIM:608670
Aplasia Cutis Congenita
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Pneumocystosis
Respiratory failure requiring assisted ventilation, Chronic oral candidiasis, Respiratory failure... ORPHA:723
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Neonatal respiratory distress, Glossoptosis, Cleft palate, Respiratory insufficiency OMIM:618356
Severe Generalized Junctional Epidermolysis Bullosa
Skin erosion, Vomiting, Edema, Esophageal stricture, Pyoderma, Constipation, Aplasia cutis congen... ORPHA:79404
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Low anterior... ORPHA:3201
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Atrophic scars, Milia, Oral mucosal blisters, Scarring alopecia of scal... ORPHA:79402
Marshall-Smith Syndrome
Choanal atresia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tongue, Generalize... ORPHA:561
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Bifid nasal tip, Sparse eyebrow, Hypospadias, Ankyloglossia, Alopecia of scalp, Sparse eyelashes,... OMIM:618874
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy, Respiratory insufficiency OMIM:614678
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Sacral dimple, Respiratory insufficiency due to muscle weakness OMIM:618291
Vipoma
Erythema, Secretory diarrhea, Abnormal gastrointestinal motility, Ascites, Neoplasm of the liver,... ORPHA:97282
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure, Widely spaced teeth OMIM:135100
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Wide nasal bridge, Depressed nasal bridge, Chylothorax, Edema, Lymphedema, Ascites,... OMIM:265300
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Furrowed tongue, Anteverted nares, Tented upper lip vermilion, Hydronephro... OMIM:616449
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Peutz-Jeghers Syndrome
Nasal polyposis, Abnormality of the nose, Neoplasm of the colon, Neoplasm of the nose, Stomach ca... ORPHA:2869
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... ORPHA:1876
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Narrow mouth, Absent nares, Aplasia/Hypoplas... ORPHA:990
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Cardiorespiratory arrest, Thin skin, Esophagitis, Median cleft palate, R... ORPHA:3342
Wolcott-Rallison Syndrome
Ascites, Exocrine pancreatic insufficiency, Dehydration ORPHA:1667
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Respiratory failure ORPHA:3226
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Open mouth, Protruding tongue, Downturned corners of mouth OMIM:618732
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Respiratory failure OMIM:618233
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Cowden Syndrome 5
Colonic diverticula, Furrowed tongue, Skin tags, Narrow mouth, Palmoplantar hyperkeratosis, High ... OMIM:615108
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Dysphagia OMIM:158900
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Difficulty in tongue movements, Respiratory insufficiency, Respiratory insufficiency due to muscl... ORPHA:308552
Wolman Disease
Steatorrhea, Ascites, Esophageal varix ORPHA:75233
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Preauricular skin tag, Webbed neck, Preauricular pit, Submucous cleft hard palate, Tracheoesophag... OMIM:619227
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Atypical scarring of skin, Inflammatory abnormality of the skin, Xerostomia, Skin ulcer, Oral-pha... ORPHA:95455
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Polyhydramnios, Anal atresia, Sacr... OMIM:314390
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Proximal Spinal Muscular Atrophy
Tongue fasciculations, Neonatal respiratory distress, Gastroesophageal reflux, Intercostal muscle... ORPHA:70
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Abnormal gastrointestinal tract morphology, Esophageal neoplas... ORPHA:1018
Agnathia-Otocephaly Complex
Microglossia, Aglossia, Narrow mouth, Polyhydramnios, Cleft palate, Wide nose OMIM:202650
Tarp Syndrome
Wide nasal bridge, Meckel diverticulum, Horseshoe kidney, Anteverted nares, Oligohydramnios, Neon... OMIM:311900
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:265120
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Abnormal tongue morphology, Narrow nose, High palate, Sparse hair, Hyp... ORPHA:2457
Dend Syndrome
Vomiting, Dehydration ORPHA:79134
Amyotrophic Lateral Sclerosis
Tongue atrophy, Respiratory failure, Xerostomia, Dysphagia ORPHA:803
Aspergillosis
Localized skin lesion, Abnormal esophagus morphology, Pleural effusion ORPHA:1163
Muscular Dystrophy, Congenital, With Or Without Seizures
Dysphagia, Respiratory failure OMIM:620166
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure OMIM:263000
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, D... OMIM:607625
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Macroglossia, Hypopigme... ORPHA:2221
Orofaciodigital Syndrome Iii
Bifid uvula, Bulbous nose, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules OMIM:258850
Renal Hypoplasia
Polydipsia, Dehydration ORPHA:93101
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremic dehydration, Constipation, Anorexia, Polyhydramnios ORPHA:223
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Respiratory failure OMIM:604320
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Ascites, Gastric varix, Pruritus, Esophageal varix, Hepatocellular c... ORPHA:64743
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure OMIM:250940
Seckel Syndrome 2
Microglossia, Prominent nose, Microdontia, Ectopic kidney, Hypospadias OMIM:606744
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... OMIM:618779
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Cowden Syndrome 6
Colonic diverticula, Furrowed tongue, Skin tags, Narrow mouth, Palmoplantar hyperkeratosis, High ... OMIM:615109
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Anteverted nares, Hydrone... ORPHA:1358
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Furrowed tongue, Dry skin, Pustule, Abnormality of the tongue, Glossitis, C... ORPHA:37
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, High palate, Narrow p... OMIM:608836
Trisomy 8Q
Wide nasal bridge, Hypoplasia of penis, Displacement of the urethral meatus, Abnormal oral frenul... ORPHA:1752
Idiopathic Pulmonary Hemosiderosis
Pallor, Respiratory failure ORPHA:99931
Holzgreve Syndrome
Webbed neck, Aplasia/Hypoplasia of the tongue, Oligohydramnios, Bifid tongue, Cleft palate ORPHA:2167
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure OMIM:620326
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Adams-Oliver Syndrome 6
Aplasia cutis congenita of scalp, Esophageal varix OMIM:616589
Congenital Multicore Myopathy With External Ophthalmoplegia
High palate, Tented upper lip vermilion, Respiratory failure ORPHA:98905
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Skin erosion, Respiratory failure, Death in childhood OMIM:617186
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy, Respiratory insufficiency OMIM:620285
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Vomiting, Recurrent hand flapping, Anorexia, Compulsive behaviors, Dehy... ORPHA:3008
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Bulbous nose, Anteverted nares, Furrowed tongue, Open mouth, Narrow mouth,... OMIM:615065
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Dysphagia, Respiratory failure, Death in childhood OMIM:619847
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth, Neonatal death OMIM:227270
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Gastroesophageal reflux, Respiratory insufficiency, Open mouth, Protruding tongue, Intercostal mu... ORPHA:258
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Open mouth, Exaggerated cupid's bow, Redundant neck skin, Macroglossia, Respiratory failure ORPHA:254528
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Long philtrum OMIM:617895
Microsporidiosis
Vomiting, Intermittent diarrhea, Peritonitis, Anorexia, Skin nodule, Nausea, Glossitis, Chronic d... ORPHA:2552
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle wea... OMIM:220110
Robinow Syndrome, Autosomal Dominant 3
Wide nasal bridge, Depressed nasal bridge, Webbed neck, Cleft lip, Dental malocclusion, Downturne... OMIM:616894
Cystic Fibrosis
Diarrhea, Exocrine pancreatic insufficiency, Ileus, Rectal prolapse, Steatorrhea, Meconium ileus,... OMIM:219700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Alopecia, Cataract, Xerostomia, Nail dystrophy, Glossitis, Hamartomat... OMIM:175500
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Intestinal obstruction, Perit... ORPHA:131
Immunodeficiency 12
Recurrent aphthous stomatitis, Skin rash, Death in adolescence, Cheilitis, Esophageal stricture OMIM:615468
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Methylmalonic Aciduria, Cblb Type
Vomiting, Dehydration OMIM:251110
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:620269
Neuroleptic Malignant Syndrome
Vomiting, Dehydration, Nausea, Dysphagia, Agitation ORPHA:94093
Hartnup Disease
Gingivitis, Glossitis, Skin rash, Hypopigmented skin patches ORPHA:2116
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Death in infancy, High palate, Dysphagia, Respiratory failure OMIM:620278
Multiple Endocrine Neoplasia Type 1
Peptic ulcer, Gastroesophageal reflux, Diarrhea, Vomiting, Anorexia, Confetti-like hypopigmented ... ORPHA:652
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Breast aplasia, Open mouth, Abnormality of the ... ORPHA:570
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Atypical scarring of skin, Gastroesophageal reflux, Skin ulcer, Joint sw... ORPHA:534
Orofaciodigital Syndrome Ii
Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Lobulated tongue, Agenesis of central i... OMIM:252100
Marburg Hemorrhagic Fever
Diarrhea, Vomiting, Bloody diarrhea, Petechiae, Skin rash, Aggressive behavior, Abnormality of th... ORPHA:99826
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Methylmalonic Aciduria, Cbla Type
Vomiting, Dehydration OMIM:251100
Congenital Sialidosis Type 2
Cataract, Ascites, Gingival overgrowth, Protruding tongue, Corneal opacity, Developmental catarac... ORPHA:93400
Dopamine Beta-Hydroxylase Deficiency
Vomiting, Diarrhea, Dehydration ORPHA:230
Raine Syndrome
Depressed nasal bridge, Highly arched eyebrow, Choanal atresia, Natal tooth, Hydroureter, Wide mo... OMIM:259775
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Pearson Syndrome
Exocrine pancreatic insufficiency, Median cleft palate, Chronic diarrhea, Corneal stromal edema, ... ORPHA:699
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Cowden Syndrome 1
Colonic diverticula, Furrowed tongue, Skin tags, Narrow mouth, Acrokeratosis, Palmoplantar hyperk... OMIM:158350
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Bloom Syndrome
Gastroesophageal reflux, Neoplasm of the colon, Stomach cancer, Skin rash, Esophageal neoplasm, R... ORPHA:125
Infantile Nephropathic Cystinosis
Vomiting, Polydipsia, Dehydration, Constipation ORPHA:411629
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Skin ulcer, Skin rash, Glossoptosis, Recurrent cutaneous abscess form... ORPHA:47
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Septo-Optic Dysplasia Spectrum
Polydipsia, Dry skin, Tracheoesophageal fistula, Esophageal atresia, Constipation, Cleft palate ORPHA:3157
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Respiratory failure ORPHA:3240
Orofaciodigital Syndrome V
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Horseshoe kidney, Thin upper lip vermilion, Medi... OMIM:174300
Primary Ciliary Dyskinesia
Intestinal malrotation, Neonatal respiratory distress, Respiratory failure ORPHA:244
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the dentition, Respiratory failure, Hepatocellular carcinoma ORPHA:88618
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Downturned corners of mouth, Wide nasal ridge, Abnormal tongue morphology ORPHA:531151
Joubert Syndrome 18
Horseshoe kidney, Renal cyst, Cleft palate, Lobulated tongue OMIM:614815
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Depressed nasal bridge, Thin skin, Thin eyebrow, Upper eyelid edema, Open mouth, Protruding tongu... OMIM:617804
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Open bite, Ankyloglossia, Short nose, Alopecia, Downturned corners ... ORPHA:1507
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Palmoplantar keratoderma, Smooth tongue, Atrophic scars, Milia, Oral mucosal blisters, ... ORPHA:79396
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Prominent nasal bridge, Narrow mouth, Renal insufficiency, Microd... ORPHA:1307
Orofaciodigital Syndrome I
Dry hair, Carious teeth, Ankyloglossia, High palate, Sparse hair, Polycystic kidney dysplasia, Al... OMIM:311200
Oligomeganephronia
Polydipsia, Dehydration ORPHA:2260
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Hypospadias, Sparse eyebrow, Microcornea, Male urethral meatus stenosis, Fur... ORPHA:464738
Congenital Disorder Of Glycosylation, Type Iia
Long philtrum, Diastema, Macrodontia, Long eyelashes, Thick eyebrow, Prominent nasal bridge, Open... OMIM:212066
Colchicine Poisoning
Nausea, Vomiting, Diarrhea, Dehydration ORPHA:31824
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:90791
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Open bite, Brittle hair, High palate, Sparse hair, Accessory oral f... ORPHA:2750
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Peg-shaped maxillary lat... OMIM:150400
Dyskeratosis Congenita, Autosomal Dominant 6
Abnormality of the dentition, Oral leukoplakia, Esophageal stenosis OMIM:616553
Intellectual Developmental Disorder, Autosomal Dominant 58
Wide nasal bridge, Broad nasal tip, Dental crowding, Protruding tongue, Submucous cleft hard pala... OMIM:618106
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Severe Congenital Nemaline Myopathy
Dysphagia, Respiratory failure ORPHA:171430
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Orofaciodigital Syndrome Type 3
Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Bulbous nose, Stage 5 chronic kid... ORPHA:2752
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Anteverted nares, Protruding tongue, Death in childhood, Alveolar ridge overgrowth, ... OMIM:612938
Infantile Krabbe Disease
Hypopigmented skin patches, Gastroesophageal reflux, Respiratory failure ORPHA:206436
Congenital Disorder Of Glycosylation, Type Iig
Wide nasal bridge, Long philtrum, Anteverted nares, Narrow mouth, Renal insufficiency, Thin upper... OMIM:611209
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Underdeveloped nasal alae, Anteverted nares, Renal cyst, Glossoptos... ORPHA:2031
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Respiratory failure ORPHA:542323
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Gracile Bone Dysplasia
Ascites, Ankyloglossia, Aniridia, Death in infancy, Micropenis OMIM:602361
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Respiratory insufficiency, Death in childhood, Dysphagia, Tongue atrophy, ... OMIM:211530
Hypoglossia With Situs Inversus
Hypodontia, High palate, Microglossia, Narrow mouth OMIM:612776
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Prominent eyelashes, Long philtrum, Prominent nasal bridge, Gingival overgrowt... OMIM:619179
Methimazole Embryofetopathy
Polyhydramnios, Tracheoesophageal fistula, Esophageal atresia ORPHA:1923
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Polydipsia, Constipation, Dehydration ORPHA:18
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ... OMIM:615512
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Downturned corners of mouth, Widely spaced teeth, Gingival overgrowth, Narrow mouth, Death in inf... OMIM:300868
Otospondylomegaepiphyseal Dysplasia
Depressed nasal bridge, Bifid uvula, Anteverted nares, Polyhydramnios, Glossoptosis, Cleft palate ORPHA:1427
Treacher-Collins Syndrome
Abnormal hair morphology, Open bite, Narrow mouth, Absent eyelashes, High palate, Rectovaginal fi... ORPHA:861
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Dysphagia, Respiratory failure, Widely spaced... ORPHA:496641
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... OMIM:200990
Hallermann-Streiff Syndrome
High, narrow palate, Choanal atresia, Alopecia, Sparse eyebrow, Natal tooth, Abnormality of the d... ORPHA:2108
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Hypospadias, Underdeveloped nasal alae, Abnormal columella morphology, Gloss... ORPHA:436003
Mhc Class I Deficiency 1
Nasal polyposis, Ectopia lentis OMIM:604571
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... ORPHA:193
Tetraamelia Syndrome 2
Absent nipple, Ankyloglossia, Bilateral cleft lip, Micropenis, Glossoptosis, Cleft palate OMIM:618021
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Ascites, Aplasia/Hypoplasia of the skin, Aplasia cutis congenita, Es... ORPHA:974
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Dysphagia, Respiratory failure ORPHA:26791
Caroli Disease
Vomiting, Ascites, Cholangiocarcinoma, Anorexia, Nausea, Pruritus, Esophageal varix ORPHA:53035
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Ascites, Polyhydramnios, Esophageal varix, Nonimmune hydrops fetalis ORPHA:367
Developmental And Epileptic Encephalopathy 80
Wide nasal bridge, Increased urine alpha-ketoglutarate concentration, Long philtrum, Tented upper... OMIM:618580
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Nephrocalcinosis, Long penis, Dental crowding, Hypertrichosis, Prem... ORPHA:769
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Sparse eyebrow, Cleft lip, Natal tooth, Renal hypoplasia, Hamartoma of tongue, Prominent nose, Re... OMIM:616300
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Recurrent upper respiratory tract infections, Diastema, Furrowed tongue, Thick eyebrow, Prominent... OMIM:300534
Infant Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70587
Stuve-Wiedemann Syndrome 1
Wide nasal base, Carious teeth, Smooth tongue, Pursed lips, Anteverted nares, Oligohydramnios, Op... OMIM:601559
Cowden Syndrome
Palmoplantar keratoderma, Hypopigmented skin patches, Generalized hyperkeratosis, Furrowed tongue... ORPHA:201
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Muscular Dystrophy, Duchenne Type
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:310200
Avian Influenza
Respiratory failure, Miscarriage ORPHA:454836
Cleidocranial Dysplasia
High, narrow palate, Depressed nasal bridge, Abnormality of the dentition, Carious teeth, Dystrop... ORPHA:1452
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glossitis, Hydrops fetalis, Stomatitis, Dehydration ORPHA:79282
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate... OMIM:258860
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Adams-Oliver Syndrome 5
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita, Esophageal varix OMIM:616028
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Increased nuchal translucency... OMIM:200600
Poliomyelitis
Paralytic ileus, Dysphagia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Oral leukoplakia, Microdontia, Palmoplantar hyperkeratosis, Esophageal stricture OMIM:224230
Visceral Myopathy, Familial, With External Ophthalmoplegia
Gastroparesis, Spontaneous esophageal perforation OMIM:277320
Adult Acute Respiratory Distress Syndrome
Respiratory failure ORPHA:70578
Acute Lung Injury
Respiratory failure ORPHA:178320
Okamoto Syndrome
Facial hypertrichosis, Exaggerated median tongue furrow, Open bite, Extension of hair growth on t... ORPHA:2729
Down Syndrome
Depressed nasal bridge, Depressed nasal ridge, Narrow palate, Abnormality of the dentition, Downt... ORPHA:870
Hypoglossia-Hypodactyly Syndrome
Wide nasal bridge, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Jejunal atre... ORPHA:989
Intellectual Developmental Disorder, Autosomal Dominant 73
Ankyloglossia, Cleft soft palate, Everted lower lip vermilion, Long nose, High palate, U-Shaped u... OMIM:620450
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure ORPHA:444013
Robinow Syndrome
Flared nostrils, Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in ... ORPHA:97360
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Macroglossia, Short nose OMIM:242860
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Oral leukoplakia, Petechiae, Pancolitis, Esophageal stricture OMIM:620133
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:610921
Brain-Lung-Thyroid Syndrome
Hypodontia, Neonatal respiratory distress, Webbed neck, Respiratory failure ORPHA:209905
Hypomandibular Faciocranial Dysostosis
Aglossia, Choanal stenosis, Pursed lips OMIM:241310
Fraser Syndrome 2
Intestinal malrotation, Narrow mouth, Rectal atresia, Anal atresia, Respiratory failure OMIM:617666
Kleefstra Syndrome 1
Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding tongue, Everted lower lip... OMIM:610253
Developmental And Speech Delay Due To Sox5 Deficiency
Dental crowding, Narrow palate, Gastroesophageal reflux, Exaggerated median tongue furrow ORPHA:313892
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Wide nasal bridge, Bifid uvula, Downturned corners of mouth, Underdeveloped nasal alae, Furrowed ... ORPHA:453499
Intellectual Developmental Disorder, Autosomal Dominant 29
Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Thick vermilion border, Open mouth,... OMIM:616078
Generalized Pustular Psoriasis
Erythematous plaque, Palmoplantar pustulosis, Pustule, Erythroderma, Geographic tongue, Cheilitis ORPHA:247353
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Protruding tongue, Smooth philtrum,... ORPHA:324410
Osteopetrosis, Autosomal Recessive 5
Gingival overgrowth, Respiratory failure, Long philtrum, Stillbirth OMIM:259720
Immunodeficiency 23
Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum contagiosum, High p... OMIM:615816
Cholesteryl Ester Storage Disease
Vomiting, Diarrhea, Death in infancy, Steatorrhea, Esophageal varix OMIM:278000
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Widely spaced teeth, Protruding tongue, Hypopigmentation of hair, Wide mouth ORPHA:98795
Frontorhiny
Cataract, Bifid tongue, Iris coloboma, Widow's peak, Cleft palate, Midline nasal groove ORPHA:391474
Otopalatodigital Syndrome Type 2
Depressed nasal bridge, Cataract, Hypospadias, Ureteral obstruction, Narrow mouth, Anodontia, Oli... ORPHA:90652
Juvenile Nephropathic Cystinosis
Vomiting, Polydipsia, Dehydration ORPHA:411634
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Natal tooth, Ascites, Hamartoma of tongue, Intestinal malrotation, Median cleft... OMIM:269860
Charcot-Marie-Tooth Disease, Type 4C
Tongue fasciculations, Tongue atrophy OMIM:601596
Au-Kline Syndrome
Chronic kidney disease, Bifid nasal tip, Bifid uvula, Dental malocclusion, Sparse lateral eyebrow... OMIM:616580
Autosomal Dominant Robinow Syndrome
Open bite, Anodontia, Hypospadias, Short nose, Wide nose, High, narrow palate, Epispadias, Alopec... ORPHA:3107
Asbestos Intoxication
Respiratory failure ORPHA:2302
Leigh Syndrome
Gastrointestinal dysmotility, Eczematoid dermatitis, Dysphagia, Respiratory failure ORPHA:506
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Iris coloboma, Hypospadias, Choanal atresia, Cataract, Cleft palate... ORPHA:818
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Respiratory failure OMIM:617301
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Downturned corners of mouth, Anteverted nares, Renal insufficiency, Protru... ORPHA:96147
Congenital Disorder Of Glycosylation, Type Iie
Neonatal asphyxia, Gastroesophageal reflux, Respiratory insufficiency, Narrow mouth, Protruding t... OMIM:608779
Chand Syndrome
Depressed nasal bridge, Hydroureter, Agenesis of permanent teeth, Abnormal oral frenulum morpholo... ORPHA:1401
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology ORPHA:252164
Costello Syndrome
Webbed neck, Nevus, Respiratory insufficiency, Thick lower lip vermilion, Redundant neck skin, Ma... OMIM:218040
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Bifid tongue, Bilateral cleft palate ORPHA:2001
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Abnormal cornea morphology, Chronic rhinitis, Absent outer dynein arms OMIM:244400
Ciliary Dyskinesia, Primary, 19
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:614935
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Palmoplantar hyperkeratosis, Oral leukoplakia, Esophageal stricture OMIM:613989
Kinsship Syndrome
Renal hypoplasia, Downturned corners of mouth, Hypertrichosis, Thick lower lip vermilion, Bulbous... OMIM:619297
Hereditary Folate Malabsorption
Cheilitis, Glossitis, Gastroesophageal reflux, Pallor ORPHA:90045
Radio-Renal Syndrome
High, narrow palate, Respiratory failure, Downturned corners of mouth ORPHA:3015
Staphylococcal Necrotizing Pneumonia
Respiratory failure ORPHA:36238
Juvenile Sialidosis Type 2
Cataract, Gingival overgrowth, Protruding tongue, Corneal opacity, Generalized hypertrichosis ORPHA:93399
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczematoid dermatitis, Skin ulcer, Urticarial plaque, Aphthous ulcer, Skin rash, Oral ulcer, Eryt... OMIM:615688
Carey-Fineman-Ziter Syndrome 1
Depressed nasal bridge, Cataract, Broad nasal tip, Microglossia, Anteverted nares, High palate, G... OMIM:254940
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,... ORPHA:352665
Chromosome 17Q12 Duplication Syndrome
Smooth philtrum, Cleft soft palate, Esophageal atresia OMIM:614526
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Ankyloglossia, Sparse hair, Iris coloboma, Choanal atresia, Sparse ey... OMIM:620186
Acute Interstitial Pneumonia
Respiratory failure ORPHA:79126
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Broad nasal tip, Midline notch of upper alveolar ridge, Hamartoma of tongu... ORPHA:2754
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Polydipsia, Constipation, Polyhydramnios, Dehydration OMIM:241200
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Oligohydramnios, Abnormality of the sense of smell, Orofacial c... ORPHA:958
Nijmegen Breakage Syndrome
Anal stenosis, Anal atresia, Deep philtrum, Anorectal anomaly, Respiratory failure, Non-midline c... ORPHA:647
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Cataract, Aminoaciduria, Anteverted nares, Opacification of the corneal stro... OMIM:214100
3-Methylglutaconic Aciduria Type 7
Respiratory failure ORPHA:445038
Cholestasis, Progressive Familial Intrahepatic, 8
Pruritus, Esophageal varix OMIM:619662
Cerebrocostomandibular Syndrome
Webbed neck, Neonatal respiratory distress, Death in infancy, Short hard palate, Glossoptosis, Cl... ORPHA:1393
Cerebrocostomandibular Syndrome
Webbed neck, Anal stenosis, Gastroesophageal reflux, Carious teeth, Cleft lip, Anteriorly placed ... OMIM:117650
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, High palate, Oligohydramnios, Dehydration ORPHA:96191
Rhombencephalosynapsis
Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Anal atresia ORPHA:59315
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:610505
Orofaciodigital Syndrome Type 2
Wide nasal bridge, Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral inciso... ORPHA:2751
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Polydipsia, Dysphagia, Dehydration OMIM:219800
Robinow Syndrome, Autosomal Recessive 1
Micropenis, Hypospadias, Short nose, Downturned corners of mouth, Long eyelashes, Absent uvula, T... OMIM:268310
Primary Biliary Cholangitis
Ascites, Xanthelasma, Gastrointestinal inflammation, Steatorrhea, Celiac disease, Pruritus, Esoph... ORPHA:186
Geleophysic Dysplasia 3
Respiratory failure, Long philtrum, Thick vermilion border OMIM:617809
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Widely spaced teeth, Protruding tongue, Hypopigmentation of hair, Wide mouth ORPHA:411511
Non-Syndromic Posterior Hypospadias
Anal atresia, Esophageal atresia, Cleft palate ORPHA:95706
Meckel Syndrome
Depressed nasal ridge, Microcornea, Cataract, Multicystic kidney dysplasia, Aplasia/Hypoplasia of... ORPHA:564
Charcot-Marie-Tooth Disease Type 4B2
Difficulty in tongue movements, Tongue atrophy, Penetrating foot ulcers, Respiratory insufficiency ORPHA:99956
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Vomiting, Dehydration ORPHA:168558
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Skin rash, Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Glossitis, Stomatitis OMIM:277380
Proximal Renal Tubular Acidosis
Vomiting, Diarrhea, Polydipsia, Dehydration ORPHA:47159
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Vomiting, Dehydration ORPHA:289548
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Cataract, Natal tooth, Long philtrum, Anteverted nares, Protruding tongue... ORPHA:50945
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Dysphagia, Respiratory failure OMIM:617248
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Hypopigmented skin patches, Abnormal dental enamel morphology, Abnormal rectum morpholo... ORPHA:2556
Mercury Poisoning
Respiratory failure ORPHA:330021
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Absent pubic hair, Absent axillary hair, Premature loss of per... OMIM:619816
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ankyloglossia, Cleft soft palate, Open mouth, Curly hair, High, narrow palate, Broad nasal tip, D... OMIM:619950
Immunodeficiency 13
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusitis OMIM:615518
Apert Syndrome
Bifid uvula, Delayed eruption of teeth, Respiratory insufficiency, Ectopic anus, Esophageal atres... ORPHA:87
Pelvis-Shoulder Dysplasia
Microcornea, Microglossia, Facial hirsutism, Thick anterior alveolar ridges, Hydronephrosis, Iris... ORPHA:2839
Ciliary Dyskinesia, Primary, 22
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms OMIM:615444
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms, Nasal congestion OMIM:616037
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Hypospadias, Diastema, Thick lower lip vermilion, Anteverted nares, Protr... OMIM:301040
Riddle Syndrome
Neonatal asphyxia, Erythema, Respiratory failure, Scaling skin ORPHA:420741
Listeriosis
Unusual skin infection, Pustule, Intermittent generalized erythematous papular rash, Respiratory ... ORPHA:533
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Narrow mouth, Submucous cleft hard palate, Thick vermilion bord... ORPHA:2554
Angelman Syndrome
Fair hair, Widely spaced teeth, Protruding tongue, Blue irides, Macroglossia, Wide mouth OMIM:105830
Marshall-Smith Syndrome
Irregular dentition, Death in childhood, Brittle hair, High palate, Sparse hair, Short nose, Choa... OMIM:602535
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Respiratory insufficiency, Intestinal malrotation, High palate, Respirat... OMIM:613658
Peripartum Cardiomyopathy
Respiratory failure ORPHA:563
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Short hard palate, Micropenis, High palate, Short nose, Downturned corner... OMIM:180700
Senior-Boichis Syndrome
Polydipsia, Ascites, Aggressive behavior, Attention deficit hyperactivity disorder, Esophageal va... ORPHA:84081
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Carious teeth, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Atro... ORPHA:79408
Mandibulofacial Dysostosis, Guion-Almeida Type
Preauricular skin tag, Deep philtrum, Esophageal atresia, Cleft palate OMIM:610536
Glycogen Storage Disease Due To Acid Maltase Deficiency
Difficulty in tongue movements, Respiratory insufficiency, Respiratory insufficiency due to muscl... ORPHA:365
1Q21.1 Microdeletion Syndrome
Wide nasal bridge, Cataract, Long philtrum, Bulbous nose, Ankyloglossia, Vesicoureteral reflux, H... ORPHA:250989
Coach Syndrome 1
Wide mouth, Esophageal varix OMIM:216360
Tarp Syndrome
Wide nasal bridge, Horseshoe kidney, Anteverted nares, Thick eyebrow, Alveolar ridge overgrowth, ... ORPHA:2886
Cirrhosis, Familial
Ascites, Esophageal varix OMIM:215600
Helsmoortel-Van Der Aa Syndrome
Carious teeth, Ankyloglossia, Everted lower lip vermilion, Short nose, High, narrow palate, Broad... OMIM:615873
Mitochondrial Complex I Deficiency, Nuclear Type 1
Tongue fasciculations, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:252010
Pallister-Hall Syndrome
Depressed nasal bridge, Choanal atresia, Microglossia, Natal tooth, Hydroureter, Cleft upper lip,... OMIM:146510
Bartter Syndrome, Type 1, Antenatal
Vomiting, Diarrhea, Constipation, Polyhydramnios, Dehydration OMIM:601678
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Dysphagia OMIM:614153
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis ORPHA:93346
Fanconi Anemia, Complementation Group B
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Death in infancy OMIM:300514
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Dysphagia ORPHA:276198
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Chronic rhinitis OMIM:617092
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Choanal atresia, Broad alveolar ridges, Cleft lip, Peters anomaly, Duodenal atresia, Bulbous nose... OMIM:616975
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft lip, Natal tooth, Hamartoma of tongue, Neonatal death, Anal atresia, Esophageal diverticulu... OMIM:617925
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Myhre Syndrome
Cleft lip, Respiratory insufficiency, Narrow mouth, Thin upper lip vermilion, Short philtrum, Res... OMIM:139210
Congenital Fiber-Type Disproportion Myopathy
Dental crowding, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness, H... ORPHA:2020
Yunis-Varon Syndrome
Broad secondary alveolar ridge, Sparse eyelashes, Micropenis, Narrow nasal base, Hypospadias, Hig... ORPHA:3472
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Long philtrum, Narrow mouth, Tented upper lip vermilion, Redundant neck skin, Hepatoblastoma, Dee... ORPHA:96334
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Vomiting, Acne, Dehydration, Miscarriage ORPHA:90794
Orofaciodigital Syndrome Vi
Broad nasal tip, Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the ... OMIM:277170
Bartter Syndrome Type 4
Polyhydramnios, Vomiting, Dehydration ORPHA:89938
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Peutz-Jeghers Syndrome
Nasal polyposis, Intestinal bleeding, Abnormality of the ureter, Labial melanotic macule, Multipl... OMIM:175200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis OMIM:613808
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Skin rash, Cleft palate ORPHA:79284
Fanconi Anemia, Complementation Group L
Webbed neck, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Cafe-au-lait spot, Clef... OMIM:614083
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration ORPHA:99885
Abetalipoproteinemia
Steatorrhea, Fat malabsorption, Respiratory failure ORPHA:14
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Absent inner and outer dynein arms OMIM:606763
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Respi... ORPHA:273
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Cataract, Downturned corners of mouth, Long philtrum, Horseshoe kidney, Fa... ORPHA:444077
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Low posterior hairline, Convex nasal ridge, High palat... OMIM:300963
Icf Syndrome
Depressed nasal bridge, Macroglossia, Protruding tongue ORPHA:2268
Congenital Tricuspid Valve Dysplasia
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Widely spaced teeth, Protruding tongue, Hypopigmentation of hair, Wide mouth ORPHA:98794
Kawasaki Disease
Strawberry tongue, Abnormality of nail color, Sterile pyuria, Lip fissure, Conjunctival hyperemia... ORPHA:2331
Mirage Syndrome
Gastroesophageal reflux, Petechiae, Achalasia, Chronic diarrhea, Esophageal stricture OMIM:617053
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Vomiting, Diarrhea, Nausea, Hepatocellular adenoma, Esophageal varix ORPHA:264580
Stickler Syndrome
Depressed nasal bridge, Depressed nasal ridge, Bifid uvula, Cataract, Ectopia lentis, Long philtr... ORPHA:828
Hardikar Syndrome
Unilateral cleft lip, Intestinal malrotation, Preauricular pit, Cleft soft palate, Bilateral clef... OMIM:301068
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory failure, Respiratory insufficiency OMIM:610913
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatoblastoma, Cholangiocarcinoma, Fat ... ORPHA:731
Tuberous Sclerosis Complex
Epidermoid cyst, Confetti-like hypopigmented macules, Hypomelanotic macule, Skin plaque, Respirat... ORPHA:805
Fontaine Progeroid Syndrome
Narrow mouth, Protruding tongue, Neonatal death, Low posterior hairline, Everted lower lip vermil... OMIM:612289
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Fair hair, Widely spaced teeth, Protruding tongue, Astigmatis... ORPHA:72
Meckel Syndrome, Type 1
Iris coloboma, Webbed neck, Natal tooth, Cleft upper lip, Enlarged naris, Intestinal malrotation,... OMIM:249000
Apert Syndrome
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Ectopic anus, Esophageal atresia, Na... OMIM:101200
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Feingold Syndrome
Orofacial cleft, Esophageal atresia, Duodenal atresia ORPHA:1305
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Micropenis, Bifid tongue, Anal atre... OMIM:613091
Myopathy, Myofibrillar, 7
Urinary incontinence, Enuresis nocturna, Tongue atrophy OMIM:617114
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ankyloglossia, Chordee, Micropenis, Sparse hair, Hypospadias, Sparse eyebrow, Broad nasal tip, Lo... OMIM:619841
Hypoglossia-Hypodactylia
Aglossia, Microglossia, Narrow mouth OMIM:103300
Lenz-Majewski Hyperostotic Dwarfism
Choanal atresia, Abnormality of the dentition, Microglossia, Anteriorly placed anus, Chordee, Cho... OMIM:151050
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Dry skin, Cleft soft palate, Narrow mouth, High palate, Dysphagia, Esophageal varix, Do... OMIM:619503
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Highly arched eyebrow, Choanal atresia, Underdeveloped nasal alae, Ankyloglo... ORPHA:261330
Fanconi Anemia, Complementation Group Q
Esophageal atresia, Anteriorly placed anus OMIM:615272
Opitz Gbbb Syndrome
Wide nasal bridge, Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Anteverted nares, Vesico... ORPHA:2745
Glucagonoma
Gastrointestinal hemorrhage, Abnormal gastrointestinal motility, Necrolytic migratory erythema, S... ORPHA:97280
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Fryns Syndrome
Meckel diverticulum, Long philtrum, Cleft upper lip, Intestinal malrotation, Tented upper lip ver... OMIM:229850
Hemorrhagic Fever-Renal Syndrome
Petechiae, Ecchymosis, Hematemesis, Melena, Respiratory failure ORPHA:340
Trisomy 18
Webbed neck, Narrow mouth, Anal atresia, Esophageal atresia, Narrow palate, Non-midline cleft of ... ORPHA:3380
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Glossitis, Pallor ORPHA:35858
Giant Cell Arteritis
Epistaxis, Alopecia, Renal insufficiency, Hematuria, Recurrent pharyngitis, Glossitis ORPHA:397
Fraser Syndrome
Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Dental malocclusion, Dental crowding, U... ORPHA:2052
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Wide mouth, Protruding tongue OMIM:614325
Dyskeratosis Congenita, Autosomal Dominant 3
Dry skin, Gastrointestinal hemorrhage, Oral leukoplakia, Esophageal stricture OMIM:613990
Granulomatosis With Polyangiitis
Keratitis, Nasal mucosa vasculitis, Oral ulcer, Concave nasal ridge, Conjunctivitis OMIM:608710
Distal Deletion 12Q
High, narrow palate, Microglossia, Long philtrum, Median cleft upper lip, Smooth philtrum, Esopha... ORPHA:96149
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Esophageal atresia ORPHA:77298
Van Esch-O'Driscoll Syndrome
Bifid uvula, Sacral dimple, Attention deficit hyperactivity disorder, Tracheoesophageal fistula, ... OMIM:301030
Joubert Syndrome 1
Nephropathy, Highly arched eyebrow, Anteverted nares, Triangular-shaped open mouth, Protruding to... OMIM:213300
Localized Junctional Epidermolysis Bullosa
Atypical scarring of skin, Milia, Scarring alopecia of scalp, Aplasia cutis congenita, Skin detac... ORPHA:251393
Congenital Tracheomalacia
Neonatal respiratory distress, Gastroesophageal reflux, Respiratory insufficiency, Tracheoesophag... ORPHA:95430
Catel-Manzke Syndrome
Bifid uvula, Cleft upper lip, Narrow naris, Thin eyebrow, Narrow nose, Narrow mouth, Low insertio... OMIM:616145
Okur-Chung Neurodevelopmental Syndrome
Wide nasal bridge, Highly arched eyebrow, Anteverted nares, Protruding tongue, Thin upper lip ver... OMIM:617062
Orofaciodigital Syndrome Type 14
Webbed neck, Hamartoma of tongue, Bulbous nose, Accessory oral frenulum, Aplasia of the epiglotti... ORPHA:434179
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, High palate, Esophageal varix, Anorexia ORPHA:394
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Neonatal respiratory distress, Cleft lip, Meckel diverticul... OMIM:265380
Bickerstaff Brainstem Encephalitis
Respiratory failure, Recurrent gastroenteritis, Respiratory failure requiring assisted ventilation ORPHA:79138
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Gastroesophageal reflux, Downturned corners of mouth, Submucous cleft soft palate, S... ORPHA:500150
Plague
Localized skin lesion, Inflammation of the large intestine, Skin ulcer, Chapped lip, Dry skin, Sk... ORPHA:707
Wilson Disease
Vomiting, Edema, Ascites, Esophageal varix, Dysphagia, Pedal edema, Hepatocellular carcinoma OMIM:277900
Cousin Syndrome
Microcornea, Microglossia, Facial hirsutism, Alveolar ridge overgrowth, Low anterior hairline, Hy... OMIM:260660
Degcags Syndrome
Chronic kidney disease, Premature graying of hair, Protruding tongue, Low posterior hairline, Cho... OMIM:619488
Nocardiosis
Subcutaneous nodule, Respiratory failure, Cutaneous abscess ORPHA:31204
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Anal stenosis, Constipation, Esophageal atresia OMIM:250250
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Cataract, Renal hypoplasia, Hypoplasia of penis, Long philtrum, Cleft upp... ORPHA:93271
Neuroocular Syndrome 1
Ankyloglossia, Torus palatinus, Brittle hair, Lens coloboma, Brushfield spots, Iris coloboma, Cat... OMIM:619539
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Developmental And Epileptic Encephalopathy 100
Depressed nasal bridge, Broad nasal tip, Gingival overgrowth, Tented upper lip vermilion, Protrud... OMIM:619777
Caroli Syndrome
Hematemesis, Cholangiocarcinoma, Melena, Pruritus, Esophageal varix ORPHA:480520
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Renal insufficiency, Intestinal obstruction, Hematuria, Proteinuria, Tubulointer... ORPHA:183
Charcot-Marie-Tooth Disease Type 4C
Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy, Respiratory insufficiency ORPHA:99949
Hutchinson-Gilford Progeria Syndrome
Alopecia totalis, Ankyloglossia, Short lingual frenulum, Narrow mouth, Absent eyebrow, High palat... ORPHA:740
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Abnormal tongue morphology, Ganglioneuromatosis, Prominent... ORPHA:653
Gm1-Gangliosidosis, Type Ii
Narrow mouth, Gingival overgrowth, Dysphagia, Protruding tongue OMIM:230600
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Wide nasal bridge, Depressed nasal bridge, Hypospadias, Renal hypoplasia, Triangular nasal tip, T... OMIM:309580
Feingold Syndrome 1
Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointestinal atresia, Everted... OMIM:164280
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ankyloglossia, Hematuria, High palate, Iris coloboma, Hypospadias, Short nose, High, narrow palat... OMIM:619475
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Submucous cleft hard palate, Thick vermilion border, Respiratory failure, Cleft palate ORPHA:2636
Vacterl With Hydrocephalus
Polyhydramnios, Anal atresia, Tracheoesophageal fistula, Esophageal atresia ORPHA:3412
Fanconi Anemia, Complementation Group D2
Attention deficit hyperactivity disorder, Tracheoesophageal fistula, Esophageal atresia, Anemic p... OMIM:227646
Joubert Syndrome 21
Dysphagia, Respiratory failure OMIM:615636
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Microglossia, Hamartoma of tongue, Intestinal malrotation, Median cleft upper lip, Micropenis, Hy... OMIM:263520
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response ORPHA:53351
Smith-Lemli-Opitz Syndrome
Hypospadias, Cataract, Cleft palate, Pyloric stenosis, Wide nasal bridge, Bifid uvula, Renal hypo... OMIM:270400
Progeroid Short Stature With Pigmented Nevi
Hypodontia, Irregular dentition, Numerous nevi, Esophageal ulceration OMIM:176690
Pulmonary Alveolar Microlithiasis
Respiratory failure, Respiratory insufficiency ORPHA:60025
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Narrow mouth, Stillbirth, Respiratory failure, Cleft palate OMIM:304120
Distal Deletion 15Q
Abnormality of the dentition, Multicystic kidney dysplasia, Broad nasal tip, Thin upper lip vermi... ORPHA:1596
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence, Tongue atrophy ORPHA:101085
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Skin ulcer, Ecchymosis, Gastric ulcer, Esophageal varix ORPHA:2072
Sarcoidosis
Cataract, Alopecia, Nephrocalcinosis, Chylothorax, Parotitis, Pleural effusion, Joint swelling, E... ORPHA:797
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Anal atresia, Hypospadias, Short nose, En... OMIM:312870
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Atopic dermatitis, Tongue atrophy, Respiratory insufficiency due to muscle weakness ORPHA:466768
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Niemann-Pick Disease Type C
Dysphagia, Respiratory failure, Respiratory insufficiency ORPHA:646
Spondyloepiphyseal Dysplasia Congenita
Glossoptosis, Cleft palate ORPHA:94068
Ulbright-Hodes Syndrome
Narrow mouth, Long upper lip, Thin vermilion border, High palate, Respiratory failure ORPHA:3404
Maternal Phenylketonuria
High palate, Esophageal atresia, Long philtrum ORPHA:2209
Arima Syndrome
Polydipsia, Esophageal varix OMIM:243910
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Esophageal varix ORPHA:309854
Orofaciodigital Syndrome Xiv
Cleft lip, Natal tooth, Anteriorly placed anus, Hamartoma of tongue, Unilateral renal hypoplasia,... OMIM:615948
Epidermolysis Bullosa Simplex With Pyloric Atresia
Aplasia cutis congenita of scalp, Skin erosion, Vomiting, Atrophic scars, Milia, Congenital pylor... ORPHA:158684
Dyskeratosis Congenita, X-Linked
Carious teeth, Oral leukoplakia, Dermal atrophy, Anal mucosal leukoplakia, Esophageal stricture, ... OMIM:305000
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Developmental cataract, Downturned corners of mouth, Cleft palate ORPHA:488642
Viss Syndrome
High, narrow palate, Bifid uvula, Atopic dermatitis, Gastroesophageal reflux, Broad uvula, Eczema... OMIM:619472
Carney Complex
Abnormal hard palate morphology, Striae distensae, Multiple lentigines, Atypical nevi in non-sun ... ORPHA:1359
Down Syndrome
Duodenal stenosis, Protruding tongue, Redundant neck skin, Aganglionic megacolon, Macroglossia, A... OMIM:190685
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Bilateral choanal atresia, Underdeveloped nasal alae, Ankyloglossia, Membra... OMIM:619525
Gabriele-De Vries Syndrome
Abnormality of the dentition, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Abnormality o... ORPHA:506358
Pallister-Hall Syndrome
Choanal atresia, Depressed nasal ridge, Cleft lip, Bifid uvula, Natal tooth, Microglossia, Hyposp... ORPHA:672
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Pterygium, Congenital pyloric atresia, Nail dystrophy,... ORPHA:79403
Biliary, Renal, Neurologic, And Skeletal Syndrome
Generalized edema, Gastroesophageal reflux, Ascites, Neonatal death, Esophageal varix, Polyhydram... OMIM:619534
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Gastrointestinal arteri... ORPHA:774
Charge Syndrome
Anal stenosis, Self-mutilation, Tracheoesophageal fistula, Esophageal atresia, Polyhydramnios, An... OMIM:214800
Microphthalmia, Syndromic 3
Esophageal atresia OMIM:206900
Bilateral Perisylvian Polymicrogyria
Gastroesophageal reflux, Dysphagia, Protruding tongue, Pseudobulbar paralysis ORPHA:98889
Cystic Fibrosis
Nasal polyposis, Meconium ileus, Nephrolithiasis, Steatorrhea, Rectal prolapse ORPHA:586
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue, Sacral dimple ORPHA:3206
Microphthalmia, Syndromic 6
Bifid uvula, Microcornea, Microglossia, Renal hypoplasia, Sclerocornea, High palate, Cleft palate OMIM:607932
Vater/Vacterl Association
Anal atresia, Tracheoesophageal fistula, Esophageal atresia OMIM:192350
Choreoacanthocytosis
Dysphagia, Protruding tongue ORPHA:2388
Alström Syndrome
Gastroesophageal reflux, Tooth agenesis, Gingivitis, Abnormality of dental color, Esophageal varix ORPHA:64

Histopathology

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

There is no histopathology data for Itgb4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Itgb4.

No publications found that use IMPC mice or data for Itgb4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Itgb4tm144(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Itgb4tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Itgb4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Itgb4tm144(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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