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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Rheumatoid Nodulosis
Subcutaneous nodule OMIM:180350
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
Numerous nevi, Melanocytic nevus OMIM:162900
Syringocystadenoma Papilliferum
Subcutaneous nodule, Nevus sebaceous, Papule ORPHA:840
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... ORPHA:64745
Darier Disease
Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Plantar pits, Subungual hyperkeratotic fr... ORPHA:218
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Crusti... ORPHA:79481
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Aplasia Cutis Congenita, Nonsyndromic
Aplasia cutis congenita over the scalp vertex OMIM:107600
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Oral mucosal blisters, Ul... ORPHA:555905
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... ORPHA:79145
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Pruritus, Carious teeth, Localized skin lesion, Skin erosion, Gastrointest... ORPHA:79410
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Abnormal oral mucosa morphology, Skin vesicle ORPHA:254478
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Oral mucosal blisters, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Sk... ORPHA:158681
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Villous atrophy, Dehydration, Protracted diarrhea, Abnormal intestine morphology OMIM:251850
Dermatitis Herpetiformis
Macule, Eczema, Edema, Malabsorption, Pruritus, Erythema, Skin vesicle ORPHA:1656
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Pierre Robin Syndrome
Neonatal respiratory distress, Pierre-Robin sequence, Upper airway obstruction, Cleft palate, Glo... OMIM:261800
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Dyspnea, Cheilitis... ORPHA:293173
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Warty Dyskeratoma
Abnormality of the alveolar ridges, Acrokeratosis, Acantholysis, Umbilicated nodule, Skin-colored... ORPHA:69745
Isolated Pierre Robin Syndrome
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate ORPHA:718
Wells Syndrome
Pruritus, Skin vesicle, Edema ORPHA:901
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Oral ulcer, Hypopigmented s... ORPHA:79480
Darier-White Disease
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar pits, Enlargem... OMIM:124200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Abnormality of the dentition, Pruritus, Oral mucos... ORPHA:79399
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Pyoderma Gangrenosum
Skin vesicle, Atrophic scars, Papule, Skin ulcer ORPHA:48104
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule ORPHA:257
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Skin rash, Eczema, Abnormality of the dentition, Pruritus, Cleft palat... ORPHA:2314
Spinal Muscular Atrophy, Type I
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood OMIM:253300
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Chronic Hiccup
Dehydration, Abnormal eating behavior ORPHA:396
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Secretory diarrhea, Dehydration, Vomiting, Papule OMIM:616069
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Abnormal oral cavity morphology... ORPHA:704
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood OMIM:616081
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Dehydration, Skin ulcer ORPHA:33355
Melkersson-Rosenthal Syndrome
Facial edema, Furrowed tongue OMIM:155900
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Thin skin, Acantholysis ORPHA:455
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Dehydration,... OMIM:615237
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting, Dehydration OMIM:610370
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Lipoid Proteinosis
Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of the gingiva, Thick lower lip vermi... ORPHA:530
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... OMIM:614399
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Hennekam-Beemer Syndrome
Macule, Pneumonia, Pruritus, Thick lower lip vermilion, Subcutaneous nodule, Erythema, Respirator... ORPHA:2135
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Dehydration OMIM:614265
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture, Crusting erythematous dermatitis, Erythema, Palmoplantar hyperkeratosis, Er... ORPHA:158673
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule ORPHA:2337
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia OMIM:613435
Familial Cold Urticaria
Pruritus, Polydipsia, Erythema, Dehydration ORPHA:47045
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... ORPHA:1832
Dyskeratosis Congenita
Macule, Esophageal stenosis, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Malabsorption... ORPHA:1775
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Aplasia cutis congenita, Acantholysis, Neonatal death, Skin erosion OMIM:609638
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Atrophic scars OMIM:131850
Enteric Anendocrinosis
Diarrhea, Vomiting, Dehydration, Malabsorption ORPHA:83620
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, I... ORPHA:3243
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Hyperkera... ORPHA:79151
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin ORPHA:313
Porphyria Variegata
Localized skin lesion, Ileus, Milia, Constipation, Hepatocellular carcinoma, Skin vesicle, Skin e... ORPHA:79473
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... ORPHA:90117
Congenital Myopathy 14
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, H... OMIM:618414
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... OMIM:618531
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Central Diabetes Insipidus
Diarrhea, Polydipsia, Anorexia, Dehydration ORPHA:178029
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Oral mucosal blisters, Congenital... OMIM:619817
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Dysphagia OMIM:615348
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:79159
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy ORPHA:103910
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Tongue fasciculations OMIM:600561
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule ORPHA:409
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence, Tooth ... OMIM:605676
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Lichen Planopilaris
Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, ... ORPHA:525
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, High palate, Neonatal death OMIM:611890
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Asthma, Hyperkeratosis, Palmoplantar keratoderma... OMIM:616029
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Abno... ORPHA:2897
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Vomiting, Dehydration OMIM:602199
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Dysphagia OMIM:618958
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Dysphagia OMIM:225753
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Gastrointestinal dysmotility, Respiratory failure, Dysphagia OMIM:618637
Harlequin Ichthyosis
Hyperkeratosis, Self-injurious behavior, Dehydration, Erythroderma ORPHA:457
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Cataract, Death in infancy OMIM:614876
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Skin nodule, Respiratory failure, Dysphagia, Re... ORPHA:2590
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Furrowed tongue, Geographic tongue OMIM:614204
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Dehydration ORPHA:289504
Chikungunya
Macule, Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Diarrhea, Crusting erythe... ORPHA:324625
Microvillus Inclusion Disease
Villous atrophy, Pruritus, Diarrhea, Dehydration, Abnormal small intestinal villus morphology ORPHA:2290
Hyperekplexia 4
Respiratory failure, High palate OMIM:618011
Solar Urticaria
Pruritus, Dyspnea, Abnormal tongue morphology, Wheezing, Abnormal lip morphology ORPHA:97230
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental ma... OMIM:614669
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Chronic Graft Versus Host Disease
Cough, Dyspnea, Esophageal stricture, Pneumothorax, Xerostomia, Bronchiectasis, Wheezing, Intermi... ORPHA:99921
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus, Erythema, Oral ulcer, Gingivitis, Skin erosion ORPHA:83453
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Autosomal Agammaglobulinemia
Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Dehydration, High palate ORPHA:33110
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Protruding tongue, Deep philtrum, Recurrent pneumonia, Gingival overgrowth,... ORPHA:99843
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Gingival overgrowth, Tracheoesophageal fistula, Furrowed t... ORPHA:1839
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency ORPHA:370968
Netherton Syndrome
Skin rash, Eczema, Malabsorption, Dehydration, Erythroderma, Dry skin ORPHA:634
Glucose/Galactose Malabsorption
Chronic diarrhea, Hypertonic dehydration, Malabsorption OMIM:606824
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Scedosporiosis
Unusual skin infection, Bronchial breath sound, Sinusitis, Pneumonia, Subcutaneous nodule, Abnorm... ORPHA:449280
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Macule, Acantholysis, Intestinal perforation, ... ORPHA:537
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Corneal dystrophy, Dental crowding, Enamel hypoplasia, Dental ... OMIM:253250
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Neuropathy, Congenital Hypomyelinating, 3
Gingival overgrowth, Narrow palate, Respiratory insufficiency, Respiratory failure, Gastroesophag... OMIM:618186
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web, Pallor, Dy... ORPHA:54028
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Intermediate Nemaline Myopathy
High, narrow palate, Respiratory failure, Long philtrum, Dysphagia ORPHA:171433
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Cataract, Malabsorption, Lymphedema, Hypogeusia, Furrowed tongue,... ORPHA:2930
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Dehydration, Death in adolescence, Vomiting, Death in childhood OMIM:560000
Boutonneuse Fever
Macule, Skin rash, Maculopapular exanthema, Skin nodule, Respiratory failure, Skin detachment, Pe... ORPHA:83313
Cystinosis
Malabsorption, Dehydration, Vomiting, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Snakebite Envenomation
Epistaxis, Localized skin lesion, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Resp... ORPHA:449285
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency, Anal atresia OMIM:276950
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip morphology, Re... ORPHA:2707
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Dyspnea, Res... ORPHA:2759
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Recurrent skin infections, Anal fissure, Nevus, Carious teeth, Narrow mouth,... ORPHA:89842
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Dehydration ORPHA:79312
Beta-Ketothiolase Deficiency
Anorexia, Edema, Diarrhea, Dehydration, Agitation, Vomiting, Pallor, Oral aversion ORPHA:134
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Lethal Acantholytic Erosive Disorder
Natal tooth, Respiratory failure, Cleft palate, Acantholysis ORPHA:158687
Methylmalonyl-Coa Epimerase Deficiency
Gastroesophageal reflux, Dehydration OMIM:251120
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Netherton Syndrome
Hypernatremic dehydration, Villous atrophy, Parakeratosis, Recurrent skin infections, Eczema, Ang... OMIM:256500
Aspergillosis
Chronic lung disease, Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnor... ORPHA:1163
Myasthenic Syndrome, Congenital, 10
Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity OMIM:254300
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Depressed nasal bridge, Furrowed tongue, Low posterior hairline, High palate, Short phi... ORPHA:1387
Orofaciodigital Syndrome Xv
Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge, Lobulated tongue, Hyd... OMIM:617127
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Death in childhood OMIM:214150
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Macule, Acantholysis, Dyspnea, Esophageal stricture, Erythema, Dysph... ORPHA:36426
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Atrophic scars, Constipation, Dysphagia... OMIM:226600
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Hyper... OMIM:620014
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Localized skin lesion, Gastrointestin... ORPHA:79409
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Death in infancy, Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Esophageal atresia, ... OMIM:226730
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Hydrops fetalis, Dehydratio... OMIM:557000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Corneal scarring, Furrowed tongue, Absen... OMIM:148210
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, High palate, Respiratory insufficiency OMIM:615330
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata, Edema OMIM:610158
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala... ORPHA:98913
Hypercalcemia, Infantile, 1
Vomiting, Dehydration OMIM:143880
Isovaleric Acidemia
Vomiting, Dehydration OMIM:243500
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Dehydration OMIM:602722
Catel-Manzke Syndrome
Highly arched eyebrow, Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Tylosis With Esophageal Cancer
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... OMIM:148500
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Propionic Acidemia
Constipation, Vomiting, Eczema, Dehydration OMIM:606054
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Vomiting, Dehydration OMIM:264350
Auriculocondylar Syndrome 1
Apnea, Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterio... OMIM:602483
Lymphangiectasia, Intestinal
Edema, Malabsorption, Abnormal hair morphology, Pedal edema, Stillbirth, Intestinal lymphangiectasia OMIM:152800
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Respiratory failure, Restrictive ventilatory defect, Dysphagia OMIM:606612
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg... ORPHA:3241
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Dehydration OMIM:212140
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Shigellosis
Anorexia, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhea, Paralytic ile... ORPHA:810
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Dysphagia OMIM:616867
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Petechiae, Purpura OMIM:620296
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Bazex-Dupre-Christol Syndrome
Eczema, Atopic dermatitis, Furrowed tongue, Nevus, Milia, Acne inversa OMIM:301845
Whistling Face Syndrome, Recessive Form
Prominent nasal bridge, Underdeveloped nasal alae, Whistling appearance, High palate, Narrow mout... OMIM:277720
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Pruritus, Secretor... OMIM:619377
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Tongue fasciculations, Congenital laryngeal stridor ORPHA:2254
Alg1-Cdg
Abnormality of the gastrointestinal tract, Respiratory failure, Protein-losing enteropathy ORPHA:79327
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t... OMIM:620107
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal dental morphology, Abnormality of the dentition,... ORPHA:158668
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... OMIM:615726
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... OMIM:141300
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavi... ORPHA:2131
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Hyperparakeratosis, Periorificial hyper... OMIM:614594
Pai Syndrome
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Bifid uvula, Abnormal or... ORPHA:1993
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Dehydration OMIM:620126
Hartnup Disorder
Glossitis, Neutral hyperaminoaciduria OMIM:234500
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Generalized Pseudohypoaldosteronism Type 1
Pustule, Vomiting, Atopic dermatitis, Dehydration ORPHA:171876
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... OMIM:613443
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, Median cleft lip, High palate, Iris coloboma, Bifid uvula OMIM:155145
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios OMIM:263200
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Cholesteryl Ester Storage Disease
Pruritus, Diarrhea, Esophageal varix ORPHA:75234
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide nasal bridg... OMIM:613604
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Bazex Syndrome
Parakeratosis, Edema, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Lip... ORPHA:166113
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Dehydration OMIM:177735
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... OMIM:614922
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Abnormal palate morphology ORPHA:75840
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Gastroesophageal reflux, Dysphagia ORPHA:70472
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Dehydration OMIM:203400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Corneal opacity, Prominent nasal bridge, Exaggerated cupid's bow, Und... ORPHA:364577
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Portal Hypertension, Noncirrhotic, 2
Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Ascites, Petechiae OMIM:619463
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough ORPHA:99931
Auriculocondylar Syndrome
Respiratory distress, Dental crowding, Hamartoma of tongue, Preauricular skin tag, Narrow mouth, ... ORPHA:137888
Noonan Syndrome 7
Numerous nevi, Dysphagia, Thick vermilion border, Webbed neck, Impaired oropharyngeal swallow res... OMIM:613706
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Skin tags, Redundant skin, Respiratory failure, Gastroesopha... OMIM:616482
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Eczema, Premature loss of primary teeth, Abnormality o... ORPHA:2907
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... OMIM:620249
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Recurrent skin infections, Abnormal dental enamel morphology, Pre... ORPHA:2908
Cholera
Miscarriage, Achlorhydria, Diarrhea, Dehydration, Vomiting, Palmoplantar cutis laxa ORPHA:173
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Chronic diarrhea, Esophageal varix, Hyperkeratosis, Inflammation of the large i... OMIM:614576
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Carious teeth, Spotty hypopigmentation, Palmoplantar hyperker... OMIM:173650
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Constipation, Polydipsia, Vomiting, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Constipation, Polydipsia, Vomiting, Hypertonic dehydration OMIM:304800
Facioscapulohumeral Muscular Dystrophy 1
Restrictive ventilatory defect, Tongue atrophy, Dysphagia OMIM:158900
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Wide mouth, Death in infancy, Respiratory failure, Short philtrum ORPHA:1194
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dysphagia ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation, Dysphagia OMIM:618233
Odontoonychodermal Dysplasia
Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Sparse eyebrow, Palmoplantar hyp... OMIM:257980
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Gastrointestinal infarct... ORPHA:679
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Bronchogenic Cyst
Pneumonia, Abnormal stomach morphology, Dyspnea, Dysphagia, Cough, Abnormal esophagus morphology ORPHA:2357
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Glycogen Storage Disease Iv
Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Ascites OMIM:232500
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Diarrhea, Peritonitis, Rectal prolapse, Colonic stenosis, Dehydration, Bl... ORPHA:90038
Lelis Syndrome
Carious teeth, Yellow nails, Palmoplantar hyperkeratosis, Furrowed tongue, Absent lower eyelashes... ORPHA:140936
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction, High palate, Hypodontia, Narrow mouth, Microglossia OMIM:612776
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Synophrys, Protruding tongue DECIPHER:52
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Dysphagia OMIM:613954
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Secretory diarrhea, Elevated stool chloride content, Dehydration OMIM:214700
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Dehydration, Oligohydramnios OMIM:208085
Early-Onset Familial Hypoaldosteronism
Vomiting, Dehydration ORPHA:556030
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Dysphagia ORPHA:496689
Melkersson-Rosenthal Syndrome
Edema, Periorbital edema, Cheilitis, Furrowed tongue, Oligosacchariduria, Macroglossia ORPHA:2483
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Edema, Diarrhea, Dehydration, Pallor, Episodic vomiting ORPHA:20
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Inflammatory abnormalit... ORPHA:95455
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Tented upper lip vermilion, Narrow palate OMIM:616505
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, ... OMIM:615510
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Wide... OMIM:616367
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Intestinal malrotation, Productive cough, Wheezing, Bronchiectasis... ORPHA:244
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Neonatal respiratory distress, Respiratory insufficiency, Cleft palate, Congenital laryngeal stri... OMIM:618356
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Vipoma
Anorexia, Malabsorption, Erythema, Secretory diarrhea, Dehydration, Hematochezia, Neoplasm of the... ORPHA:97282
Ring Chromosome 22 Syndrome
Edema, Protruding tongue, Lymphedema, Bulbous nose, Pleural effusion, Thick vermilion border, Wid... ORPHA:1446
Lysosomal Acid Lipase Deficiency
Pruritus, Diarrhea, Esophageal varix, Dehydration, Xanthelasma, Vomiting, Xanthomatosis, Steatorr... ORPHA:275761
Pallister-Hall-Like Syndrome
Death in infancy, Median cleft lip, Depressed nasal bridge, Cleft palate, Micropenis, Microglossi... OMIM:241800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Dehydration OMIM:251000
Agel Amyloidosis
Tongue atrophy, Cataract, Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Keratoc... ORPHA:85448
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Dehydration ORPHA:35710
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower lip vermilion, P... OMIM:300602
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Erythematous oral mucosa, Keratoconjunctivitis, Hematuria, Furrowed tongue, C... OMIM:158310
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Sandestig-Stefanova Syndrome
Respiratory failure, High palate, Orofacial cleft OMIM:618804
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cataract, Depressed nasal bridge, Anteverted nares, Protruding tongue, Low anterior hairline, Gin... OMIM:618797
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... OMIM:211530
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology ORPHA:803
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Malabsorption, Recurrent pneumonia, ... ORPHA:47
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... OMIM:607823
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... ORPHA:95430
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Hiatus hernia, Pyloric stenosis, Dyspnea, Cardiorespiratory... ORPHA:3342
Acrodermatitis Enteropathica
Malabsorption, Pustule, Erythema, Abnormality of the tongue, Cheilitis, Furrowed tongue, Skin ulc... ORPHA:37
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Down Syndrome
Cataract, Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the de... ORPHA:870
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Low anterior hairline, Abnormality of the sense... ORPHA:3201
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Edema, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morph... ORPHA:98974
Immunodeficiency 12
Skin rash, Esophageal stricture, Cheilitis, Bronchiectasis, Death in adolescence, Recurrent aphth... OMIM:615468
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Spinocerebellar Ataxia Type 1
Respiratory failure, Dysphagia ORPHA:98755
Ramos-Arroyo Syndrome
Sparse scalp hair, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Keratitis, Ca... ORPHA:1051
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Dysphagia ORPHA:216873
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Dehydration OMIM:615453
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palat... ORPHA:1790
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Hartnup Disease
Skin rash, Malabsorption, Hypopigmented skin patches, Gingivitis, Glossitis ORPHA:2116
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Respiratory insufficiency, Macro... ORPHA:258
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Dysphagia OMIM:620166
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Synophrys, Oligodontia, High palate, Exaggerated median tongue furrow... OMIM:608670
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Cough, Dyspnea, Abnormal esophagus mor... ORPHA:1018
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Apla... ORPHA:79402
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency OMIM:614678
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Polyhydramnios, Coronal hypospadias, E... OMIM:619859
Congenital Multicore Myopathy With External Ophthalmoplegia
Tented upper lip vermilion, Pneumonia, Abnormal respiratory system physiology, Respiratory failur... ORPHA:98905
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Thin skin, Short nose,... ORPHA:561
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Edema, Skin erosion, Esophageal stricture, Dehydration, Gastrointestin... ORPHA:79404
Seckel Syndrome 2
Hypospadias, Ectopic kidney, Prominent nose, Microdontia, Microglossia OMIM:606744
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, High palate, Chy... OMIM:620278
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Widely spaced teeth, Respiratory insufficiency OMIM:135100
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Anteverted nares, Hypospadias, Tented upper lip vermilion, Cleft palate, Furrowed tongu... OMIM:616449
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Peritonitis, Esophageal varix... ORPHA:131
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Polyhydramnios, Absent nares, Narrow ... ORPHA:990
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Neonatal death, Ana... OMIM:314390
Wolcott-Rallison Syndrome
Ascites, Dehydration, Exocrine pancreatic insufficiency ORPHA:1667
Cowden Syndrome 5
Colonic diverticula, Skin tags, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyp... OMIM:615108
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Skin erosion, Death in childhood OMIM:617186
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Preauricular pit, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Web... OMIM:619227
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Wolman Disease
Ascites, Esophageal varix, Steatorrhea ORPHA:75233
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Pallor ORPHA:3226
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Long philtrum OMIM:617895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Narrow palate,... OMIM:608836
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Sparse eyelashes, Bifid nasal tip, Sparse eyebrow, Bilater... OMIM:618874
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion ORPHA:542323
Tarp Syndrome
Anteverted nares, Wide nasal bridge, Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis... OMIM:311900
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Thin ski... ORPHA:2457
Retinitis Pigmentosa 89
Esophageal varix OMIM:618955
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Lymphangiectasia, Pulmonary, Congenital
Depressed nasal bridge, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Palpebral... OMIM:265300
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Pruritus, Esophageal varix, Gastric varix, Hepatocellular carcinoma,... ORPHA:64743
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... ORPHA:2221
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropath... OMIM:175500
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Glandular hypospadias,... ORPHA:1358
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Dysphagia, Respirator... OMIM:607625
Bloom Syndrome
Skin rash, Pneumonia, Esophageal neoplasm, Chronic pulmonary obstruction, Cheilitis, Respiratory ... ORPHA:125
Renal Hypoplasia
Polydipsia, Dehydration ORPHA:93101
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Anorexia, Constipation, Polydipsia ORPHA:223
Orofaciodigital Syndrome Iii
Supernumerary tooth, Bulbous nose, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Agnathia-Otocephaly Complex
Wide nose, Polyhydramnios, Aglossia, Cleft palate, Narrow mouth, Microglossia OMIM:202650
Portal Hypertension, Noncirrhotic, 1
Esophageal varix OMIM:617068
Dend Syndrome
Vomiting, Dehydration ORPHA:79134
Cowden Syndrome 6
Colonic diverticula, Skin tags, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyp... OMIM:615109
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Peutz-Jeghers Syndrome
Melanonychia, Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnormality of the n... ORPHA:2869
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Downturned corners of mouth, Respiratory fail... ORPHA:3015
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Webbed neck, Bifid tongue, Oligohydramnios ORPHA:2167
Trisomy 8Q
Hypoplasia of penis, Non-midline cleft lip, Wide nasal bridge, Orofacial cleft, Cleft palate, Abn... ORPHA:1752
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency OMIM:620285
Adams-Oliver Syndrome 6
Esophageal varix, Aplasia cutis congenita of scalp OMIM:616589
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Malabsorption, Skin ulcer, Narrow palate, Atypical scarring of skin, Self-injur... ORPHA:534
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Anteverted nares, Highly arched eyebrow, Bulbous nose, Cleft palate, Furrowed ton... OMIM:615065
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Narrow mouth OMIM:227270
Pyruvate Carboxylase Deficiency
Anorexia, Dehydration, Vomiting, Abnormal temper tantrums, Compulsive behaviors, Recurrent hand f... ORPHA:3008
Methylmalonic Aciduria, Cblb Type
Vomiting, Dehydration OMIM:251110
Moebius Syndrome
Death in infancy, Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormality of... ORPHA:570
Microsporidiosis
Anorexia, Peritonitis, Chronic diarrhea, Skin nodule, Dehydration, Vomiting, Intermittent diarrhe... ORPHA:2552
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure, Dysphagia OMIM:619847
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Exaggerated cupid's bow, Macroglossia, Respiratory failure, Open mouth ORPHA:254528
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... ORPHA:2752
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:620269
Robinow Syndrome, Autosomal Dominant 3
Depressed nasal bridge, Anteverted nares, Cleft lip, Dental malocclusion, Wide nasal bridge, Ging... OMIM:616894
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Hematemesis, Diarrhea, Dehydration, Melena, Large cafe-au... ORPHA:652
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Neuroleptic Malignant Syndrome
Dehydration, Agitation, Vomiting, Dysphagia, Nausea ORPHA:94093
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... ORPHA:209905
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Congenital Sialidosis Type 2
Cataract, Corneal opacity, Edema, Protruding tongue, Gingival overgrowth, Developmental cataract,... ORPHA:93400
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Dysphagia ORPHA:26791
Mohr Syndrome
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Broad nasal tip, Bifid nasal t... OMIM:252100
Immunodeficiency 23
Eczema, Allergic rhinitis, Esophageal stricture, Asthma, Erythema, Bronchiectasis, Chronic mucocu... OMIM:615816
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting, Dehydration ORPHA:230
Adams-Oliver Syndrome 5
Cutis marmorata telangiectatica congenita, Pulmonary arterial hypertension, Esophageal varix, Apl... OMIM:616028
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Maculopapular exanthema, Skin rash, Anorexia, Aggressi... ORPHA:99826
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Constipation, Polydipsia, Dry skin ORPHA:3157
Cowden Syndrome 1
Colonic diverticula, Skin tags, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Hama... OMIM:158350
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Pearson Syndrome
Exocrine pancreatic insufficiency, Chronic diarrhea, Hydrops fetalis, Dysphagia, Dehydration, Cor... ORPHA:699
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Gastroesophageal reflux, Hypopigmented skin patches ORPHA:206436
Familial Renal Glucosuria
Dehydration ORPHA:69076
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Horseshoe... OMIM:174300
Infantile Nephropathic Cystinosis
Constipation, Polydipsia, Vomiting, Dehydration ORPHA:411629
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Depressed nasal bridge, Protruding tongue, Synophrys, Widow's peak, Upper eyelid edema, High pala... OMIM:617804
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Methylmalonic Aciduria, Cbla Type
Vomiting, Dehydration OMIM:251100
Otospondylomegaepiphyseal Dysplasia
Cataract, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Cleft palate, Glossoptosis, B... ORPHA:1427
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Abnormality of the dentition, Hepatocellular carcinoma ORPHA:88618
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Prominent nasal bridge, Renal hypoplasia, Cleft palate, High pa... ORPHA:1307
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Joubert Syndrome 18
Lobulated tongue, Cleft palate, Renal cyst, Horseshoe kidney OMIM:614815
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal tongue morphology, Downturned corners of mouth, Wide nasal ridge ORPHA:531151
Cystic Fibrosis
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Dehydration, Steatorrhea, Exocrine pancreatic i... OMIM:219700
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh... ORPHA:1507
Oligomeganephronia
Polydipsia, Dehydration ORPHA:2260
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Oral mucosal blisters, Eryt... ORPHA:79396
Orofaciodigital Syndrome Type 1
Brittle hair, Lobulated tongue, Coarse hair, High palate, Sparse hair, Multicystic kidney dysplas... ORPHA:2750
Colchicine Poisoning
Diarrhea, Vomiting, Nausea, Dehydration ORPHA:31824
Raine Syndrome
Natal tooth, Death in infancy, Hydroureter, Depressed nasal bridge, Choanal atresia, Highly arche... OMIM:259775
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy OMIM:616155
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Macrodontia, Prominent nasal bridge, Protruding tongue, Diastema, Gingival overgro... OMIM:212066
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... OMIM:150400
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:90791
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Tented upper lip vermilion, Anteverted nares, Hypospadias, Exaggerated cupid's... ORPHA:464738
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula, Polyhydramnios ORPHA:1923
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Broad nasal tip, Protruding tongue, Submucous cleft hard palate, Wide nasal brid... OMIM:618106
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, High palate, Sparse hair, Alopecia, Hamartoma of tongue, Cleft upper ... OMIM:311200
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Wid... ORPHA:496641
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition OMIM:616553
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion bord... OMIM:612938
Severe Congenital Nemaline Myopathy
Respiratory failure, Dysphagia ORPHA:171430
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Distal Renal Tubular Acidosis
Diarrhea, Dehydration, Constipation, Vomiting, Polydipsia ORPHA:18
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Glossoptosis, Laryngotracheomalacia, Abnormal respiratory system physiology ORPHA:93346
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Renal cyst, Glossoptos... ORPHA:2031
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Seborrheic dermatitis, Pierre-Robin sequence, Gingival overgrowth, Downturned c... OMIM:300868
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Renal insufficiency, Anteverted nares, Hypospadias, Hemolytic-uremic sy... OMIM:611209
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Aplasia/Hypoplasia of the skin, Esophageal varix, Aplasia cutis cong... ORPHA:974
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Prominent eyelashes, Wide nasal bridge, Gingival overg... OMIM:619179
Gracile Bone Dysplasia
Death in infancy, Aniridia, Micropenis, Ascites, Ankyloglossia OMIM:602361
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ... OMIM:200990
Tetraamelia Syndrome 2
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Micropenis, Ankyloglossia OMIM:618021
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Atopic dermatitis ORPHA:3240
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Restrictive ventilatory defect, Resp... ORPHA:420741
Treacher-Collins Syndrome
Hypoplasia of penis, Low anterior hairline, Glossoptosis, High palate, Iris coloboma, Abnormal de... ORPHA:861
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Ascites, Esophageal varix, Nonimmune hydrops fetalis, Polyhydramnios ORPHA:367
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Abnormal columella mor... ORPHA:436003
Cohen Syndrome
Macrodontia, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Abnormality of the dentiti... ORPHA:193
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Choanal atresia, Underdeveloped nasal alae, Abnormality ... ORPHA:2108
Geleophysic Dysplasia 3
Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum OMIM:617809
Developmental And Epileptic Encephalopathy 80
Increased urine alpha-ketoglutarate concentration, Death in infancy, Tented upper lip vermilion, ... OMIM:618580
Cowden Syndrome
Macule, Subcutaneous nodule, Hypopigmented skin patches, Furrowed tongue, Hamartomatous polyposis... ORPHA:201
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... OMIM:258860
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Glossitis, Hydrops fetalis, Dehydration ORPHA:79282
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short nose OMIM:242860
Rabson-Mendenhall Syndrome
Wide nose, Anteverted nares, Prominent nasal bridge, Dental crowding, Abnormality of the dentitio... ORPHA:769
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Dehydration, Vomiting, Polydipsia ORPHA:47159
Stuve-Wiedemann Syndrome 1
Pursed lips, Death in infancy, Anteverted nares, Carious teeth, Oligohydramnios, Thin vermilion b... OMIM:601559
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Hamartoma of tongue, Prominent nose, Sparse eyebrow, Cleft lip, Renal hypoplasia, Re... OMIM:616300
Dyskeratosis Congenita, Autosomal Recessive 1
Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, Microdontia, Oral leukoplakia OMIM:224230
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Ectopia lentis OMIM:604571
Cleidocranial Dysplasia
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormality... ORPHA:1452
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea, Dysphagia OMIM:617301
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar... OMIM:617248
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis OMIM:277320
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Thick eyebrow, Prominent nasal bridge, Diastema, Recurrent upper respir... OMIM:300534
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Protruding to... OMIM:200600
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Caroli Disease
Cholangiocarcinoma, Anorexia, Pruritus, Esophageal varix, Vomiting, Ascites, Nausea ORPHA:53035
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae OMIM:620133
Poliomyelitis
Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure, Dysphagia ORPHA:2912
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Recurrent skin infections, Anal fissure, Oral mucosal blisters, Carious t... ORPHA:79408
Costello Syndrome