Not currently registered for phenotyping at IMPC

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

Gene Summary

spalt like transcription factor 3
Msal,  Msal-1,  Spalt,  Salt,  B130022O04Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sall3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Sall3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy, Facial edema OMIM:155900
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Facial palsy, Velopharyngeal insufficiency OMIM:617732
Benign Schwannoma
Abnormal cranial nerve morphology, Abnormality of peripheral nervous system electrophysiology, Na... ORPHA:252164
Burning Mouth Syndrome
Tongue pain, Dysesthesia, Impaired temperature sensation, Parageusia, Abnormal fifth cranial nerv... ORPHA:353253
Charcot-Marie-Tooth Disease, Type 4C
Scoliosis, Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potenti... OMIM:601596
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency, Abnormality of the pharynx ORPHA:2291
Arnold-Chiari Malformation Type I
Scoliosis, Gait ataxia, Dysesthesia, Dysphagia, Cranial nerve compression, Cervical C2/C3 vertebr... ORPHA:268882
Adducted Thumbs Syndrome
Craniosynostosis, Dysphagia, Cleft palate, High palate, High, narrow palate, Velopharyngeal insuf... OMIM:201550
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Death in infancy, Abnormal intestine morphology, Dehydration OMIM:251850
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Charcot-Marie-Tooth Disease Type 4C
Positive Romberg sign, Sensory ataxia, Gait ataxia, Drooling, Difficulty in tongue movements, Abn... ORPHA:99949
Isolated Pierre Robin Syndrome
Glossoptosis, Abnormality of the pharynx, Cleft palate ORPHA:718
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Easily subluxated first metacarpophalangeal joints, Cleft pa... OMIM:311895
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Abnormal form of the vertebral bodies, Cleft palate ORPHA:3104
Lactase Deficiency, Congenital
Dehydration, Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Chronic Hiccup
Abnormal eating behavior, Dehydration ORPHA:396
Cleft Velum
Cleft soft palate, Aspiration pneumonia, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia ORPHA:99772
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Cleft Lip/Palate
Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral cleft, Peg-shaped maxillary lateral ... ORPHA:199306
Chromosome 22Q11.2 Duplication Syndrome
High palate, Velopharyngeal insufficiency OMIM:608363
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Long philtrum, Dehydration, Platyspondyly OMIM:618958
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Decreased nerve conduction velocity, Intention tremor, Ataxia, Wide nasal bri... OMIM:618356
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Horner syndrome, Kyphosis, Ataxia, Short mandibular rami, Dental maloc... OMIM:141300
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Dysphagia, Chorea, Optic atrophy, Tongue atrophy ORPHA:216873
Hereditary Angioedema Type 1
Intestinal edema, Abnormal soft palate morphology, Edema of the dorsum of hands, Abnormal respira... ORPHA:100050
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Optic atrophy, Ankle clonus, Cleft palate OMIM:618768
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent bronchiolitis, Dehydration, Edema, Recurrent pneumonia OMIM:616069
Arthrogryposis, Distal, Type 1C
Pursed lips, Scoliosis, Thin vermilion border, Camptodactyly of finger, Narrow mouth, Camptodacty... OMIM:619110
Epilepsy, Progressive Myoclonic, 9
Scoliosis, Microglossia, Gait ataxia OMIM:616540
Hartnup Disorder
Episodic ataxia, Glossitis OMIM:234500
Orofaciodigital Syndrome V
Scoliosis, Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Kyphoscoliosis, Knee flexion contracture, Tongue atrophy ORPHA:496689
Transient Neonatal Diabetes Mellitus
Macroglossia, Dehydration ORPHA:99886
Familial Cold Urticaria
Polydipsia, Dehydration, Dysesthesia, Arthritis ORPHA:47045
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Distal Monosomy 17Q
Narrow mouth, Abnormality of the philtrum, Abnormal form of the vertebral bodies, Aplasia/Hypopla... ORPHA:1597
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis, Laryngeal cleft OMIM:615706
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Gilbert Syndrome
Dehydration OMIM:143500
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Abnormal aryepiglottic fold morphology, Narrow mouth, Pierre-Robin sequence, Cle... OMIM:268305
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Cleft palate, Glossoptosis, Oral synechia ORPHA:1388
Tonne-Kalscheuer Syndrome
Tremor, Narrow mouth, Downturned corners of mouth, Dysphagia, Wide nasal bridge, Pulmonary hypopl... OMIM:300978
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration, Optic atrophy, Choreoathetosis, Ataxia ORPHA:27
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis OMIM:614876
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration, Optic atrophy, Choreoathetosis ORPHA:79312
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Facial palsy, Tongue atrophy OMIM:158900
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Facial palsy ORPHA:2743
Melkersson-Rosenthal Syndrome
Macroglossia, Abnormal autonomic nervous system physiology, Cheilitis, Furrowed tongue, Facial pa... ORPHA:2483
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Camptodactyly of finger, Decreased nerve conduction velocity ORPHA:2928
Secondary Short Bowel Syndrome
Polyphagia, Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, De... ORPHA:95427
Solar Urticaria
Abnormal tongue morphology, Abnormal lip morphology, Edema, Periorbital edema, Angioedema ORPHA:97230
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Scoliosis, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of c... ORPHA:2919
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Dysphagia, Kyphosis, Ankle clonus, Ataxia, Facial palsy, Tongue fasciculations, Crania... OMIM:211530
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Bulbous nose, Palpebral edema, Everted lower lip vermilion, Thick vermilion border, Furrowed tong... ORPHA:966
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Chondrocalcinosis, Acetabular erosions, Depressed nasal bridge, P... OMIM:601492
Autosomal Agammaglobulinemia
Bronchiectasis, Dehydration, Sinusitis, High palate, Malabsorption, Recurrent respiratory infecti... ORPHA:33110
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Reticular Dysgenesis
Dehydration, Malabsorption, Recurrent respiratory infections ORPHA:33355
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Underdeveloped nasal alae, Microglossia, Knee flexion contracture, K... OMIM:277720
Smith-Magenis Syndrome
Scoliosis, Abnormality of the larynx, Abnormality of the dentition, Wide nasal bridge, Oral cleft... OMIM:182290
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Congenital Tufting Enteropathy
Optic disc coloboma, Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresi... ORPHA:92050
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Long philtrum, Genu valgum, Narrow mouth, Bulbous nose, Aplasia/Hypoplas... ORPHA:2496
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Dysphagia, Smooth philtrum, Abnormality of the dentition, Laryngomalacia... ORPHA:576283
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Osteoarthritis, Cleft palate ORPHA:166100
Enteric Anendocrinosis
Dehydration, Malabsorption ORPHA:83620
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Congenital Enterocyte Heparan Sulfate Deficiency
Dehydration, Edema, Protein-losing enteropathy ORPHA:103910
Charcot-Marie-Tooth Disease Type 1F
Scoliosis, Positive Romberg sign, Impaired pain sensation, Gait ataxia, Flexion contracture of fi... ORPHA:101085
Lipoid Proteinosis
Tongue nodules, Dysphagia, Nasal polyposis, Microglossia, Abnormal oral mucosa morphology, Abnorm... ORPHA:530
Spinocerebellar Ataxia Type 36
Truncal ataxia, Hand tremor, Head tremor, Limb ataxia, Dysphagia, Ataxia, Dysmetria, Intention tr... ORPHA:276198
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Central Diabetes Insipidus
Dehydration, Polydipsia ORPHA:178029
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Abnormality of the dentition, Thin upper lip vermilio... OMIM:616331
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Hypomandibular Faciocranial Dysostosis
Polyhydramnios, Craniosynostosis, Narrow mouth, Short nose, Laryngeal hypoplasia, Optic disc colo... ORPHA:1790
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Hypercalcemia, Infantile, 1
Dehydration, Thick lower lip vermilion OMIM:143880
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Genu recurvatum, Kyphosis, Maxillary lateral incisor microdontia, Broad n... OMIM:300602
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Small, conical teeth, Hypodontia, Bifid uvula, Depressed... OMIM:129400
Coffin-Siris Syndrome 11
Bulbous nose, Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High pala... OMIM:618779
Developmental And Speech Delay Due To Sox5 Deficiency
Scoliosis, Narrow palate, Thoracic kyphoscoliosis, Dental crowding, Lumbar hyperlordosis, Vertebr... ORPHA:313892
Carey-Fineman-Ziter Syndrome
Scoliosis, Broad nasal tip, Pierre-Robin sequence, Dysphagia, Microglossia, Glossoptosis, Facial ... OMIM:254940
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Abnormality of the mouth, Abnormality of the philtrum, Abnormal form of the verte... ORPHA:2759
Lamellar Ichthyosis
Everted lower lip vermilion, Recurrent respiratory infections, Abnormality of the dentition, Dehy... ORPHA:313
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis, Short philtrum, Tooth malposition, Everted lower lip vermilion, Furrowe... ORPHA:1387
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Harlequin Ichthyosis
Dehydration, Eclabion, Recurrent respiratory infections ORPHA:457
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad nasal tip, Short nose, Abnormality of the dentition, Wide nasal bridge, Tria... OMIM:618529
Ring Chromosome 22 Syndrome
Gait ataxia, Bulbous nose, Neurofibromas, Lymphedema, Pleural effusion, Thick vermilion border, P... ORPHA:1446
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration, Orthostatic hypotension OMIM:610600
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Dysphagia, Intra-oral hyperpigmentation, Cheilitis, Geophagia, Esophagea... ORPHA:54028
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Esophageal varix, Neonatal death, Pulmonary hypoplasia, Dehydration OMIM:263200
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Genu recurvatum, Kyphosis, Maxillary lateral incisor microdontia, Broad n... OMIM:300431
Pallister-Hall-Like Syndrome
Short nose, Death in infancy, Microglossia, Pulmonary hypoplasia, Cleft palate, Hip dislocation, ... OMIM:241800
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Cleft palate, Bifid uvula, High, narrow palate, Anteverted nares, Arthropa... OMIM:604841
Orofaciodigital Syndrome Xiv
Natal tooth, Hamartoma of tongue, Aplasia of the epiglottis, Bifid tongue, Cleft lip, Lobulated t... OMIM:615948
Spinocerebellar Ataxia 36
Gait ataxia, Truncal ataxia, Limb ataxia, Dysphagia, Ataxia, Tongue fasciculations, Tongue atrophy OMIM:614153
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Ankle clonus, Cleft palate ORPHA:506353
Carey-Fineman-Ziter Syndrome
Scoliosis, Long philtrum, Thin vermilion border, Short nose, Pierre-Robin sequence, Abnormality o... ORPHA:1358
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis OMIM:241310
Zimmermann-Laband Syndrome 3
Kyphosis, Wide nasal bridge, Gingival overgrowth, Broad nasal tip, Bifid uvula, High palate, Thic... OMIM:618658
Dend Syndrome
Long philtrum, Short nose, Downturned corners of mouth, Dehydration, Anteverted nares, Prominent ... ORPHA:79134
Orofaciodigital Syndrome Type 14
Bulbous nose, Hamartoma of tongue, Aplasia of the epiglottis, Bifid tongue, Supernumerary tooth, ... ORPHA:434179
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Temple Syndrome
Scoliosis, Short philtrum, Cleft palate, Bifid uvula, High palate, Anteverted nares, Wide nose, D... OMIM:616222
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Glossopharyngeal Neuralgia
Tongue pain, Dysesthesia, Abnormal palate morphology, Cranial nerve compression, Oral-pharyngeal ... ORPHA:221098
Buratti-Harel Syndrome
Laryngomalacia, Recurrent pneumonia, Bifid uvula, High palate, Velopharyngeal insufficiency, Subm... OMIM:619314
Glucose/Galactose Malabsorption
Hypertonic dehydration, Malabsorption OMIM:606824
Alternating Hemiplegia Of Childhood
Tremor, Downturned corners of mouth, Chorea, Dysphagia, Abnormal autonomic nervous system physiol... ORPHA:2131
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Craniosynostosis, Wide mouth, Ataxia, Bifid uvula, High palate, Microdontia, Widely... OMIM:266920
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Mulibrey Nanism
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Wid... OMIM:253250
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Agenesis of permanent teeth, Short lingual frenulum, Short uvula, Flat acetabula... OMIM:614091
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Polyhydramnios, Abnormal cranial nerve morphology, Narrow mouth, Microglossia, Aplasia/Hypoplasia... ORPHA:990
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Juvenile Sialidosis Type 2
Abnormal form of the vertebral bodies, Dysphagia, Ataxia, Protruding tongue, Dysmetria, Gingival ... ORPHA:93399
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia, Kyphoscoliosis OMIM:227250
Hypoglossia-Hypodactyly Syndrome
Abnormal cranial nerve morphology, Narrow mouth, Death in infancy, Aplasia/Hypoplasia of the tong... ORPHA:989
Otospondylomegaepiphyseal Dysplasia
Polyhydramnios, Platyspondyly, Enlarged joints, Coronal cleft vertebrae, Anteverted nares, Abnorm... ORPHA:1427
Orofaciodigital Syndrome Iii
Bulbous nose, Tongue nodules, Kyphosis, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Early-Onset Familial Hypoaldosteronism
Dehydration, Orthostatic hypotension ORPHA:556030
W Syndrome
Cubitus valgus, Elbow dislocation, Agenesis of maxillary central incisor, Upper lip pit, Broad uv... ORPHA:2804
Polydipsia, Dehydration, Malabsorption ORPHA:213
Amish Lethal Microcephaly
Cleft soft palate, Optic atrophy, Death in infancy ORPHA:99742
Orofaciodigital Syndrome Xv
Anteverted nares, Lobulated tongue, Wide nasal bridge OMIM:617127
Kleefstra Syndrome 2
Bifid uvula, Scoliosis, Everted lower lip vermilion, Kyphosis OMIM:617768
Classical-Like Ehlers-Danlos Syndrome Type 2
Dislocated wrist, Narrow palate, Tooth malposition, Elbow dislocation, Radioulnar dislocation, Ph... ORPHA:536532
Isolated Cleft Lip
Polyhydramnios, Macrodontia, Non-midline cleft lip, Hypodontia, Supernumerary maxillary incisor, ... ORPHA:199302
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Hamart... ORPHA:137888
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Hypodontia, Glossoptosis, Joint dislocation, High, narrow palate, Submuc... ORPHA:3201
X-Linked Dystonia-Parkinsonism
Chorea, Resting tremor, Laryngeal stridor, Protruding tongue, Aspiration pneumonia, Impaired orop... ORPHA:53351
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Underdeveloped nasal alae, Choanal atresia, ... OMIM:608572
Myopathy, Myofibrillar, 7
Scoliosis, Thoracic kyphosis, Dysphagia, Lumbar hyperlordosis, Facial palsy, Elbow flexion contra... OMIM:617114
Developmental And Epileptic Encephalopathy 80
Long philtrum, Death in infancy, Wide mouth, Smooth philtrum, Tented upper lip vermilion, Wide na... OMIM:618580
Deafness-Craniofacial Syndrome
Short philtrum, Underdeveloped nasal alae, Abnormal palate morphology, Abnormality of the dentiti... ORPHA:3241
Pallister W Syndrome
Cubitus valgus, Agenesis of central incisor, Agenesis of maxillary central incisor, Submucous cle... OMIM:311450
Marshall-Smith Syndrome
Scoliosis, Craniosynostosis, Short nose, Open mouth, Choanal atresia, Protruding tongue, Gingival... ORPHA:561
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Dehydration, Ataxia OMIM:560000
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Glossitis, Stomatitis, Smooth philtrum, Ataxia, Dehydration, Peripheral demyelin... ORPHA:79282
Isovaleric Acidemia
Dehydration OMIM:243500
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Smooth philtrum, Abnormality of the dentition, Thick upper lip vermilion, Anal atr... ORPHA:363444
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Short nose, A... ORPHA:870
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Narrow mouth OMIM:227270
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Scoliosis, Long philtrum, Short philtrum, Truncal ataxia, Drooling, Downturned corners of mouth, ... OMIM:619121
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Death in infancy OMIM:208085
Dysphagia, Respiratory tract infection, Dehydration, Abnormal esophagus morphology ORPHA:1549
Angelman Syndrome Due To A Point Mutation
Drooling, Dysphagia, Wide mouth, Ataxia, Abnormal eating behavior, Protruding tongue, Widely spac... ORPHA:411511
Congenital Sialidosis Type 2
Respiratory tract infection, Ataxia, Protruding tongue, Edema, Ascites, Gingival overgrowth, Dysm... ORPHA:93400
Orofaciodigital Syndrome Vi
Broad nasal tip, Tongue nodules, Cleft upper lip, Cleft palate, High palate, Accessory oral frenulum OMIM:277170
Netherton Syndrome
Emphysema, Dehydration, Malabsorption, Recurrent respiratory infections ORPHA:634
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Scoliosis, Tremor, Drooling, Limitation of movement at ankles, Dysphagia, Wide mouth, Ataxia, Abn... ORPHA:98794
Congenital Disorder Of Glycosylation, Type Id
Bulbous nose, Villous atrophy, Wide nasal bridge, Joint contracture of the hand, Bifid uvula, Hig... OMIM:601110
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Laryngeal hypoplasia, Tracheomalacia, Microglossia, Hypoplasia of the epi... OMIM:202650
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Dehydration, Recurrent respiratory infections OMIM:264350
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Postural tremor, Tremor, Impaired vibratory sensation, Hand tremor, Chore... ORPHA:99
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Dislocated radial head, Camptodactyly of finger, Platyspondyly, Irregu... OMIM:612350
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Oligodontia, Agenesis of central incisor, Bulbous nose, Oligohydramnios, Underdeveloped nasal ala... ORPHA:364577
Neuroleptic Malignant Syndrome
Tremor, Drooling, Excessive salivation, Chorea, Dysphagia, Abnormal autonomic nervous system phys... ORPHA:94093
Oculocerebrorenal Syndrome Of Lowe
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Narrow palate, Joint swel... ORPHA:534
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology, Dehydration ORPHA:2290
Beta-Ketothiolase Deficiency
Dehydration, Oral aversion, Edema, Ataxia ORPHA:134
Isolated Permanent Neonatal Diabetes Mellitus
Downturned corners of mouth, Ataxia, Dehydration, Peripheral axonal neuropathy, Prominent metopic... ORPHA:99885
Cronkhite-Canada Syndrome
Lymphedema, Furrowed tongue, Stomach cancer, Intestinal polyposis, Hamartomatous polyposis, Malab... ORPHA:2930
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate ORPHA:2521
Paraspinal neurofibromas, Enlarged peripheral nerve, Intestinal bleeding, Atypical neurofibromato... ORPHA:252183
Optic disc coloboma, Pulmonary venous occlusion, Dehydration, Pulmonary hypoplasia, Polydipsia ORPHA:2260
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Narrow mouth, Facial palsy, Bifid uvula, High palate, Facial diplegia ORPHA:169186
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Intestinal perforation, Abnormal salivary gland morphology, Abnormal a... ORPHA:314652
Moebius Syndrome
Dysdiadochokinesis, Abnormal nasopharynx morphology, Dysphagia, Abnormality of the dentition, Bif... OMIM:157900
Holzgreve Syndrome
Oligohydramnios, Aplasia/Hypoplasia of the tongue, Abnormally ossified vertebrae, Aplasia/Hypopla... ORPHA:2167
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Scoliosis, Bulbous nose, Wide nasal bridge, Cleft upper lip, Cleft palate, Bifid uvula, Anteverte... OMIM:300958
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Scoliosis, Macroglossia, Oligodontia, Craniosynostosis, Impaired pain sensation, Downturned corne... ORPHA:453499
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Anteverted nares, Pierre-Robin sequence, Morbus Scheuermann, Kyphosis, ... OMIM:108300
Moebius Syndrome
Open mouth, Dysphagia, Everted lower lip vermilion, Death in infancy, Aplasia/Hypoplasia of the t... ORPHA:570
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Nasal polyposis, Median cleft lip OMIM:155145
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Scoliosis, Short philtrum, Narrow mouth, Cleft palate, Bifid uvula, High palate, Pyloric stenosis... ORPHA:96184
Loeys-Dietz Syndrome 4
Scoliosis, Protrusio acetabuli, Emphysema, Broad uvula, Bifid uvula, High palate, High, narrow pa... OMIM:614816
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Laryngotracheomalacia, Abnormal vertebral morphology, Delayed ossif... ORPHA:93346
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Supernumerary tooth, Cleft soft palate, Bicoronal synost... OMIM:604757
Tarp Syndrome
Tongue nodules, Wide nasal bridge, Glossoptosis, Cleft palate, High palate, Optic atrophy, Anteve... OMIM:311900
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Enlarged joints, Impaired pain sensati... OMIM:601559
Cardiocranial Syndrome, Pfeiffer Type
Contracture of the proximal interphalangeal joint of the 2nd finger, High, narrow palate, Wide na... ORPHA:2872
Pai Syndrome
Nasal polyposis, Midline defect of the nose, Cleft palate, Abnormal oral frenulum morphology, Bif... ORPHA:1993
9q subtelomeric deletion syndrome
Protruding tongue, Anteverted nares, Short nose DECIPHER:52
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Short philtrum, Bulbous nose, Deep philtrum, Death in infancy, Smooth phil... OMIM:618622
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Bulbous nose, Furrowed tongue, Cleft palate, Hip dislocation, Elbow fle... OMIM:615065
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Birk-Barel Syndrome
Short philtrum, Dysphagia, Submucous cleft soft palate, Tented upper lip vermilion, Bifid uvula, ... OMIM:612292
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Wide nasal bridge, Delayed cranial suture cl... ORPHA:2780
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Scoliosis, Ankyloglossia, Ataxia, Dysmetria, Intention tremor OMIM:619352
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Congenital hip dislocation, Camptodactyly of toe, Lumbar hyperlordosis, ... OMIM:114300
Mohr Syndrome
Scoliosis, Wormian bones, Accessory oral frenulum, Agenesis of central incisor, Broad nasal tip, ... OMIM:252100
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormality of the tongue, Dysphagia, Opisthotonus, Aspiration pneumonia, Optic disc pallor ORPHA:216866
Temple Syndrome
Bifid uvula, Scoliosis, Polyphagia ORPHA:254516
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Scoliosis, Craniosynostosis, Lambdoidal craniosynostosis, Open mouth, Downturned corne... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Scoliosis, Craniosynostosis, Lambdoidal craniosynostosis, Open mouth, Downturned corne... ORPHA:352665
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Narrow mouth, Microglossia, Abnormality of the wrist, Cleft palate, High palat... ORPHA:1307
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Propionic Acidemia
Dehydration OMIM:606054
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Oligohydramnios, Dehydration, Gingival overgrowth, High palate, Prominent nose ORPHA:96191
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Hip dislocation, Tongue atrophy OMIM:614678
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Short nose, Bronchiectasis, Pneumonia, Protruding tongue, Sinusitis, Malabsorption,... OMIM:242860
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Depressed nasal bridge, Supernumerary tooth, Bifid uvula, High... OMIM:617412
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Limited elbow extension, Radioulnar synostosis, Laryngeal hypoplasia, Aganglionic mega... OMIM:154400
Acro-Renal-Mandibular Syndrome
Scoliosis, Short philtrum, Oligohydramnios, Kyphosis, Aplasia/Hypoplasia of the tongue, Hemiverte... ORPHA:958
9Q21.13 Microdeletion Syndrome
Scoliosis, Craniosynostosis, Abnormal tongue morphology, Downturned corners of mouth, Vertebral s... ORPHA:531151
Mcdonough Syndrome
Short philtrum, Furrowed tongue, Kyphoscoliosis, Dental malocclusion, Prominent nose OMIM:248950
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Cri-Du-Chat Syndrome
Scoliosis, Short philtrum, Downturned corners of mouth, Wide nasal bridge, Oral cleft, Anterior o... OMIM:123450
Generalized Pseudohypoaldosteronism Type 1
Dehydration, Recurrent upper and lower respiratory tract infections ORPHA:171876
Agel Amyloidosis
Respiratory tract infection, Orthostatic hypotension due to autonomic dysfunction, Ataxia, Xerost... ORPHA:85448
Angelman Syndrome
Scoliosis, Macroglossia, Drooling, Progressive gait ataxia, Wide mouth, Protruding tongue, Limb t... OMIM:105830
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Wide nasal bridg... OMIM:616367
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Diastema, Smooth philtrum, Thin upper lip vermilion, Furrowed tongue, High palate, High, narrow p... OMIM:300534
Emanuel Syndrome
Scoliosis, Long philtrum, Delayed eruption of teeth, Tooth malposition, Congenital hip dislocatio... ORPHA:96170
Trisomy 8Q
Camptodactyly of finger, Everted lower lip vermilion, Non-midline cleft lip, Wide nasal bridge, O... ORPHA:1752
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ankyloglossia, Glossoptosis, Bilateral cleft lip OMIM:618021
Orofaciodigital Syndrome Iv
Tongue nodules, Hamartoma of tongue, Lobulated tongue, Cleft palate, High palate, Accessory oral ... OMIM:258860
Hereditary Mucoepithelial Dysplasia
Pulmonary fibrosis, Furrowed tongue, Gingival overgrowth, Tracheoesophageal fistula, Recurrent re... ORPHA:1839
Methylmalonic Aciduria, Cbla Type
Dehydration, Tremor OMIM:251100
Catel-Manzke Syndrome
Joint dislocation, Glossoptosis, Cleft upper lip, Cleft palate, High palate OMIM:616145
Polyhydramnios, Tracheal atresia, Gingival cleft, Unilateral cleft lip, Laryngomalacia, Cleft pal... ORPHA:2189
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Wide mouth, Hypodontia, Anterior open-bite mal... ORPHA:3473
Angelman Syndrome
Scoliosis, Tremor, Drooling, Polyphagia, Dysphagia, Wide mouth, Ataxia, Protruding tongue, Optic ... ORPHA:72
Cohen Syndrome
Scoliosis, Genu valgum, Short philtrum, Cubitus valgus, Open mouth, Kyphosis, Aplasia/Hypoplasia ... ORPHA:193
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Long philtrum, Macroglossia, Short nose, Dental crowding, Thoracic hemivertebrae, Thin... OMIM:268310
Renal Hypoplasia
Dehydration, Polydipsia ORPHA:93101
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Long philtrum, Downturned corners of mouth, Deep philtrum, Kyphosis, Intestinal malrot... ORPHA:404440
Megalocornea-Mental Retardation Syndrome
Long philtrum, Genu valgum, Genu recurvatum, Dysphagia, Ataxia, Wide nasal bridge, Bifid uvula, H... OMIM:249310
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Scoliosis, Delayed closure of the anterior fontanelle, Dental crowding, Natal too... OMIM:300373
Hyperphosphatasia-Intellectual Disability Syndrome
Scoliosis, Short philtrum, Bulbous nose, Downturned corners of mouth, Oligohydramnios, Aganglioni... ORPHA:247262
Bilateral Polymicrogyria
Pseudobulbar paralysis, Drooling, Difficulty in tongue movements, Wide mouth, Abnormal glossophar... ORPHA:268940
Orofaciodigital Syndrome Type 3
Bulbous nose, Thoracic kyphosis, Hamartoma of tongue, Abnormality of the dentition, Irregular den... ORPHA:2752
Charge Syndrome
Polyhydramnios, Delayed eruption of teeth, Scoliosis, Abnormal cranial nerve morphology, Abnormal... ORPHA:138
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tremor, Abnormality of peripheral somatosensory evoked potentials, Flexion contracture of finger,... ORPHA:466768
Velocardiofacial Syndrome
Bulbous nose, Open mouth, Underdeveloped nasal alae, Pierre-Robin sequence, Unilateral primary pu... OMIM:192430
Netherton Syndrome
Villous atrophy, Hypernatremic dehydration, Abnormal intestine morphology, Angioedema, Intestinal... OMIM:256500
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Protruding tongue, Cleft palate, Bifid uvula, Anteverted nares OMIM:612938
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Protruding tongue, Dysphagia, Wide mouth ORPHA:98795
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration, Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Hypertonic dehydration, Polydipsia OMIM:304800
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Orthostatic hypotension ORPHA:230
Acute colitis, Paralytic ileus, Intestinal perforation, Ulcerative colitis, Pneumonia, Dehydratio... ORPHA:810
Acromegaloid Facial Appearance Syndrome
Abnormality of the tongue, Macroglossia, Bulbous nose, Palpebral edema, Everted lower lip vermili... ORPHA:965
Cowden Syndrome 5
Scoliosis, Narrow mouth, Kyphosis, Intention tremor, Furrowed tongue, Colonic diverticula, High p... OMIM:615108
Down Syndrome
Macroglossia, Aganglionic megacolon, Protruding tongue, Anal atresia, Duodenal stenosis, Shallow ... OMIM:190685
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Scoliosis... ORPHA:1452
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Short nose, Natal tooth, Choanal atresia, Wide mouth, Protruding... OMIM:259775
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Chromosome 18Q Deletion Syndrome
Scoliosis, Short philtrum, Tremor, Downturned corners of mouth, Chorea, Thin upper lip vermilion,... OMIM:601808
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis, Macroglossia, Open mouth, Dysphagia, Atelectasis, Protruding tongue, Fa... ORPHA:258
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Intestinal carcinoid, Gingival fibromatosis, Insulinoma, Pheochromocy... ORPHA:652
3-Hydroxy-3-Methylglutaric Aciduria
Dehydration, Edema, Ataxia ORPHA:20
Limb-Mammary Syndrome
Bifid uvula, Cleft palate, Joint contracture of the hand, Hypodontia OMIM:603543
Psoriasis 14, Pustular
Geographic tongue, Polyarticular arthritis, Oligoarthritis, Furrowed tongue OMIM:614204
Mandibuloacral Dysplasia
Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding, Delayed cranial suture closure,... ORPHA:2457
Cowden Syndrome 6
Scoliosis, Narrow mouth, Kyphosis, Intention tremor, Furrowed tongue, Colonic diverticula, High p... OMIM:615109
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Dental crowding, Cleft palate, Bifid uvula, Kyphoscoliosis, High, narrow palate, ... OMIM:309583
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Wide nasal bridge, Broad n... OMIM:223370
Hartnup Disease
Gingivitis, Malabsorption, Glossitis, Ataxia ORPHA:2116
Wolcott-Rallison Syndrome
Dehydration, Ascites ORPHA:1667
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Everted lower lip vermilion, Diastema, Wide mouth, Abnormality... OMIM:212066
Abnormal vocal cord morphology, Glossitis, Bronchiolitis, Pneumonia, Pharyngitis, Dehydration, Si... ORPHA:2552
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Everted lower lip vermilion, Smooth philtrum, Protruding tongue, Kyphoscoliosis, Pr... ORPHA:324410
Dehydration, Malabsorption, Ascites, Ganglioneuroma ORPHA:97282
Contractures-Developmental Delay-Pierre Robin Syndrome
Radioulnar synostosis, Underdeveloped nasal alae, Abnormality of frontal sinus, Peripheral pulmon... ORPHA:436003
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Paresthesia, Protein-losing enteropathy, Xerostomia, Hamartomatous polyposis, Malabsor... OMIM:175500
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Tracheomalacia, Laryngomalacia, Protruding tongue, Gingival overgrowth, Anteverted na... OMIM:618797
Orofaciodigital Syndrome Type 4
Choanal atresia, Oral cleft, Rectovaginal fistula, High, narrow palate, Absent crus of helix, Wid... ORPHA:2753
Craniolenticulosutural Dysplasia
Scoliosis, Long philtrum, Carious teeth, Delayed eruption of teeth, Delayed closure of the anteri... OMIM:607812
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Genu valgum, Hypoplasia of the tooth germ, Oligohydramnios, Abnormality of the optic disc, Contra... ORPHA:293967
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Genu valgum, Platyspondyly, Laryngotracheomalacia, Kyphosis, Lumbar hyperlordosis, Abn... ORPHA:94068
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Hypodontia, Hemivertebrae, Vertebral fusion, Kyphoscoliosis... OMIM:263540
Autosomal Recessive Robinow Syndrome
Open bite, Scoliosis, Downturned corners of mouth, Elbow dislocation, Death in infancy, Oral clef... ORPHA:1507
Joubert Syndrome 1
Macroglossia, Ataxia, Protruding tongue, Triangular-shaped open mouth, Anteverted nares, Optic di... OMIM:213300
Microcephaly 26, Primary, Autosomal Dominant
Scoliosis, Long philtrum, Short nose, Wide nasal bridge, Protruding tongue, Gingival overgrowth, ... OMIM:619179
Desbuquois Dysplasia 2
Long philtrum, Platyspondyly, Dental crowding, Radial head subluxation, Hypodontia, Lumbar hyperl... OMIM:615777
Otopalatodigital Syndrome Type 2
Scoliosis, Camptodactyly of finger, Oligodontia, Tarsal synostosis, Narrow mouth, Short nose, Elb... ORPHA:90652
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Accessory oral frenulum, Tarsal synostosis, Tremor,... ORPHA:2750
Pearson Syndrome
Median cleft lip and palate, Hydrops fetalis, Dysphagia, Steatorrhea, Ataxia, Corneal stromal ede... ORPHA:699
Ramos-Arroyo Syndrome
Long philtrum, Carious teeth, Narrow mouth, Aganglionic megacolon, Abnormal autonomic nervous sys... ORPHA:1051
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Pierre-Robin sequence, Ovoid vertebral bodies, Kyphosis, Limitation of ... OMIM:183900
Cerebrocostomandibular Syndrome
Polyhydramnios, Long philtrum, Scoliosis, Anomalous tracheal cartilage, Congenital hip dislocatio... OMIM:117650
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue, Drooling, Scoliosis OMIM:614325
Yellow Fever
Dehydration ORPHA:99829
Branchiootorenal Syndrome 1
Congenital hip dislocation, Intestinal malrotation, Facial palsy, Increased overbite, Cleft palat... OMIM:113650
Giant Cell Arteritis
Glossitis, Paresthesia, Abnormal pleura morphology, Ataxia, Recurrent pharyngitis, Optic atrophy,... ORPHA:397
Kleefstra Syndrome 1
Macroglossia, Everted lower lip vermilion, Natal tooth, Persistence of primary teeth, Protruding ... OMIM:610253
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Smooth philtrum OMIM:614526
Lelis Syndrome
Furrowed tongue, Carious teeth, Abnormality of the mouth, Hypodontia ORPHA:140936
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Long philtrum, Agenesis of permanent teeth, Downturned corners of mouth, Short nose, K... OMIM:616894
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cubitus valgus, Macroglossia, Protruding tongue, Pulmonary hypoplasia, Widely patent fontanelles ... OMIM:214100
Ritscher-Schinzel Syndrome 2
Scoliosis, Protruding tongue, Short philtrum OMIM:300963
Orofaciodigital Syndrome Type 6
Tremor, Broad nasal tip, Midline notch of upper alveolar ridge, Tongue nodules, Hamartoma of tong... ORPHA:2754
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Dental crowding, Wide nasal bridge, Protruding tongue, High palate, ... OMIM:141750
Tarp Syndrome
Scoliosis, Abnormal duodenum morphology, Tongue nodules, Pierre-Robin sequence, Wide nasal bridge... ORPHA:2886
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Erosion of oral mucosa, Pneumonia, Esophageal stricture, Laryngeal stenosis, D... ORPHA:79404
Schilbach-Rott Syndrome
Narrow mouth, Submucous cleft hard palate, Bifid uvula, Long nose, Prominent nose OMIM:164220
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Steatorrhea, Recurrent bronchopulmonary inf... OMIM:219700
X-Linked Agammaglobulinemia
Abnormal lung morphology, Sinusitis, Glossoptosis, Recurrent pneumonia, Malabsorption, Arthritis ORPHA:47
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Choanal atresia, Esophageal atresia, Ectopic anus, Clef... ORPHA:87
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Intussusception, Colonic stenosis, Rectal prolapse, Dehydr... ORPHA:90038
Seckel Syndrome 2
Microdontia, Microglossia, Prominent nose OMIM:606744
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Bulbous nose, Oligohydramnios, Smooth philtrum, Cleft soft palate, Prominent nose ORPHA:293725
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Marshall-Smith Syndrome
Scoliosis, Short philtrum, Short nose, Choanal atresia, Irregular dentition, Laryngomalacia, Deat... OMIM:602535
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Underdeveloped nasal alae, Tongue ... OMIM:311200
Meckel Syndrome 12
Bifid uvula, Anteverted nares, Oligohydramnios, Wide nasal bridge OMIM:616258
Pyruvate Carboxylase Deficiency
Dehydration, Tremor, Ataxia ORPHA:3008
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Agenesis of maxillary incisor, Ataxia, Atelecta... ORPHA:1401
Cowden Syndrome 1
Scoliosis, Narrow mouth, Kyphosis, Intention tremor, Furrowed tongue, Colonic diverticula, High p... OMIM:158350
Diamond-Blackfan Anemia 6
Bifid uvula, Tracheomalacia, Cleft upper lip, Cleft palate OMIM:612561
Dehydration, Aspiration pneumonia ORPHA:173
Icf Syndrome
Macroglossia, Protruding tongue, Malabsorption, Recurrent respiratory infections, Depressed nasal... ORPHA:2268
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Absent frontal sinuses, Short nose, Hemivertebrae, Protruding tongue, U-Shaped uppe... OMIM:301040
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Natal tooth, Anal atresia, Bifid tongue, Cleft lip, Lobulated tongue, Clef... OMIM:616300
Smith-Lemli-Opitz Syndrome
Polyhydramnios, Scoliosis, Abnormal dental enamel morphology, Choanal atresia, Increased nuchal t... ORPHA:818
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Underdeveloped nasal alae, Lambdoidal craniosynostosis, Rectovaginal fis... OMIM:218600
Loeys-Dietz Syndrome 5
Hiatus hernia, Congenital finger flexion contractures, Flexion contracture of toe, Smooth philtru... OMIM:615582
Scoliosis, Camptodactyly of finger, Midline nasal groove, Hypoplastic frontal sinuses, Lumbar hyp... ORPHA:391474
Robinow Syndrome
Scoliosis, Dental crowding, Hemivertebrae, Oral cleft, Triangular mouth, Depressed nasal bridge, ... ORPHA:97360
Coffin-Siris Syndrome 12
Scoliosis, Hip subluxation, Bulbous nose, Underdeveloped nasal alae, Radioulnar synostosis, Antev... OMIM:619325
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Median cleft lip and palate, Natal tooth, Hamartoma of tongue, Intestinal malrota... OMIM:269860
Multiple Endocrine Neoplasia Type 2
Hyperlordosis, Neuroma, Abnormal tongue morphology, Pheochromocytoma, Multiple mucosal neuromas, ... ORPHA:653
Neu-Laxova Syndrome
Polyhydramnios, Scoliosis, Abnormality of the mouth, Abnormality of the philtrum, Everted lower l... ORPHA:2671
Rabson-Mendenhall Syndrome
Macroglossia, Dental crowding, Abnormality of the dentition, Furrowed tongue, Gingival overgrowth... ORPHA:769
Stüve-Wiedemann Syndrome
Scoliosis, Genu valgum, Camptodactyly of finger, Flexion contracture of finger, Paresthesia, Olig... ORPHA:3206
Autosomal Dominant Robinow Syndrome
Open bite, Scoliosis, Oligodontia, Downturned corners of mouth, Elbow dislocation, Hemivertebrae,... ORPHA:3107
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Scoliosis, Long philtrum, Bulbous nose, Choanal atresia, Smooth philtrum, Abnormality of the dent... OMIM:300968
Orofaciodigital Syndrome Type 10
Long philtrum, Tarsal synostosis, Cleft soft palate, Metatarsal synostosis, Accessory oral frenul... ORPHA:2756
Tick-Borne Encephalitis
Tremor, Abnormal cranial nerve morphology, Dysphagia, Abnormal autonomic nervous system physiolog... ORPHA:297
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Long philtrum, Platyspondyly, Hydrops fetalis, Short nose, Synostosis of joints, ... ORPHA:50945
Proximal Renal Tubular Acidosis
Polydipsia, Dehydration, Malabsorption, Enamel hypomineralization ORPHA:47159
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Recurrent pneumonia, Short philtrum, Everted lower lip vermilion, Kyphosis, Tented upp... ORPHA:464738
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, High palate, Glossitis, Stomatitis OMIM:277380
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Abnormality of dental morphology, Cho... ORPHA:861
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Apert Syndrome
Delayed eruption of teeth, Anomalous tracheal cartilage, Humeroradial synostosis, Narrow palate, ... OMIM:101200
Nephrogenic Diabetes Insipidus
Polyhydramnios, Polydipsia, Hypernatremic dehydration ORPHA:223
Fanconi Anemia
Meckel diverticulum, Scoliosis, Oligohydramnios, Aplasia/Hypoplasia of the uvula, Aganglionic meg... ORPHA:84
Cystinosis, Nephropathic
Genu valgum, Dysphagia, Oral-pharyngeal dysphagia, Dehydration, Polydipsia OMIM:219800
Infantile Nephropathic Cystinosis
Dehydration, Polydipsia ORPHA:411629
Distal Renal Tubular Acidosis
Dehydration, Polydipsia ORPHA:18
Lysosomal Acid Lipase Deficiency
Dehydration, Esophageal varix, Ascites, Steatorrhea ORPHA:275761
Walker-Warburg Syndrome
Bifid uvula, Optic atrophy, Submucous cleft hard palate, Cleft palate ORPHA:899
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Narrow palate, Palpebral edema, Deep philtrum, Long upper lip, Ataxia, Wide... ORPHA:99843
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Abnormal form of the vertebral bodies, Lumbar hy... ORPHA:2839
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Anteverted nares, Glossoptosis, Short nose, Underdeveloped nasal alae ORPHA:2031
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Paresthesia, Chondrocalcinosis, Dehydration, Polydipsia OMIM:241200
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Opitz Gbbb Syndrome, Type Ii
Hiatus hernia, Craniosynostosis, Anal stenosis, Dysphagia, Smooth philtrum, Laryngeal cleft, Wide... OMIM:145410
Microglossia, Narrow mouth, Aglossia OMIM:103300
Stickler Syndrome
Open bite, Scoliosis, Abnormal dental enamel morphology, Osteoarthritis, Depressed nasal bridge, ... ORPHA:828
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Hamartoma of tongue, Intestinal malrotation, Anal atresia, Bifid tongue, Cleft upper l... OMIM:613091
Pallister-Hall Syndrome
Abnormal lung lobation, Bifid epiglottis, Short nose, Natal tooth, Choanal atresia, Radial head s... OMIM:146510
Prader-Willi Syndrome Due To Translocation
Scoliosis, Carious teeth, Broad nasal tip, Downturned corners of mouth, Oligohydramnios, Short no... ORPHA:177907
Colchicine Poisoning
Dehydration ORPHA:31824
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Scoliosis, Bulbous nose, Choanal atresia, Smooth philtrum, Furrowed tongue, Lumbar hyperlordosis,... OMIM:616975
Branchioskeletogenital Syndrome
Thin vermilion border, Carious teeth, Short philtrum, Craniosynostosis, Downturned corners of mou... ORPHA:1299
Kid Syndrome
Abnormality of the tongue, Delayed eruption of teeth, Carious teeth, Oral leukoplakia, Aganglioni... ORPHA:477
Progeria-Short Stature-Pigmented Nevi Syndrome
Paresthesia, Fragile teeth, Hypodontia, Selective tooth agenesis, Bifid uvula, Dental malocclusio... ORPHA:2959
Cerebrocostomandibular Syndrome
Kyphosis, Death in infancy, Tracheomalacia, Cleft palate, Glossoptosis, Short hard palate ORPHA:1393
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Short nose, Downturned corners of mouth, Everted lower lip vermilion, Protruding to... ORPHA:96147
Acrodermatitis Enteropathica
Abnormality of the tongue, Glossitis, Cheilitis, Furrowed tongue, Malabsorption ORPHA:37
Frontometaphyseal Dysplasia 2
Scoliosis, Dislocated radial head, Short philtrum, Congenital hip dislocation, Broad nasal tip, P... OMIM:617137
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Laryngotracheomalacia, Laryngeal web, Cleft palate, Bifid uvula, Butterfly vertebrae OMIM:617660
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal dental enamel morphology, Kyphosis, Choanal atresia, Wide mouth, Thick vermil... ORPHA:2658
Zttk Syndrome
Scoliosis, Thin vermilion border, Short philtrum, Craniosynostosis, Narrow mouth, Downturned corn... OMIM:617140
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Drooling, Dysphagia, Choanal atresia, Protruding tongue, Dysmetria, Facia... ORPHA:98889
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Genu valgum, Macroglossia, Drooling, Open mouth, Thick lower lip vermilion, Wide mouth, Tented up... OMIM:309580
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Long philtrum, Craniosynostosis, Underdeveloped nasal alae, Peripheral pulmonary artery stenosis,... OMIM:617506
Mesomelia-Synostoses Syndrome
Partial fusion of proximal row of carpal bones, Metacarpal synostosis, Abnormal vertebral morphol... OMIM:600383
Fontaine Progeroid Syndrome
Scoliosis, Oligodontia, Craniosynostosis, Narrow mouth, Death in infancy, High, narrow palate, De... OMIM:612289
Juvenile Nephropathic Cystinosis
Dehydration, Polydipsia ORPHA:411634
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Short nose, Smooth philtrum, Thick vermilion border, Protruding tongue, Wide nose OMIM:608779
Opitz Gbbb Syndrome
Long philtrum, Ankyloglossia, Craniosynostosis, Prominent metopic ridge, Dysphagia, Natal tooth, ... ORPHA:2745
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Long philtrum, Thin vermilion border, Depressed nasal bridge OMIM:241410
Kinsship Syndrome
Scoliosis, Ankyloglossia, Short philtrum, Dislocated radial head, Bulbous nose, Downturned corner... OMIM:619297
Robinow Syndrome, Autosomal Dominant 1
Long philtrum, Macroglossia, Delayed eruption of teeth, Narrow palate, Short nose, Downturned cor... OMIM:180700
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration, Paresthesia, Chondrocalcinosis OMIM:601678
Cousin Syndrome
Dislocated radial head, Microglossia, Wrist flexion contracture, Joint contracture of the hand, C... OMIM:260660
Frontometaphyseal Dysplasia
Scoliosis, Limited wrist movement, Oligodontia, Craniosynostosis, Dislocated radial head, Limitat... ORPHA:1826
Hereditary Acrokeratotic Poikiloderma
Open bite, Oral leukoplakia, Ankyloglossia, Camptodactyly of finger, Narrow mouth, Abnormality of... ORPHA:2907
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Short philtrum, Tremor, Narrow mouth, Open mouth, Dental crowding, Drooling, Kyphosis,... OMIM:300967
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Stomatitis, Cleft palate ORPHA:79284
Hallermann-Streiff Syndrome
Abnormality of the tongue, Narrow mouth, Underdeveloped nasal alae, Natal tooth, Choanal atresia,... ORPHA:2108
Hereditary Folate Malabsorption
Glossitis, Recurrent respiratory infections, Cheilitis ORPHA:90045
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Delayed eruption of teeth, Narrow mouth, Dental crowding, Thin upper lip vermilio... OMIM:300990
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
15Q Overgrowth Syndrome
Scoliosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Craniosynostosis,... ORPHA:314585
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Hydrops fetalis, Abnormality of the larynx, Hamartoma of tongue, Intestinal malrot... OMIM:263520
Odontoonychodermal Dysplasia
Smooth tongue, Agenesis of permanent teeth, Abnormality of primary teeth, Hypodontia OMIM:257980
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Short nose, Downturned corners of mouth, Intestinal malrotation, Smooth philtrum, Op... OMIM:619321
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi... ORPHA:1071
Myhre Syndrome
Platyspondyly, Thin vermilion border, Narrow mouth, Gingival cleft, Unilateral cleft lip, Abnorma... ORPHA:2588
Fraser Syndrome
Abnormal lung lobation, Midline nasal groove, Underdeveloped nasal alae, Anal stenosis, Dental cr... ORPHA:2052
Holoprosencephaly 3
Solitary median maxillary central incisor, Proboscis, Cleft lip, Cleft palate, Bifid uvula, Singl... OMIM:142945
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Pierre-Robin sequence, Cleft palate OMIM:614921
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Craniosynostosis, Abnormality of the larynx, Bronchomalacia, Laryngomalacia, A... ORPHA:79396
Anomalous pulmonary venous return, Narrow mouth, Short nose, Intestinal malrotation, Depressed na... ORPHA:35107
Meckel Syndrome
Oligohydramnios, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cleft palate, Optic atrophy ORPHA:564
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Furrowed tongue, Oral leukoplakia, Elbow flexion contracture, Knee flexion contracture OMIM:148210
Pachyonychia Congenita 3
Oral leukoplakia, Gingivitis, Chapped lip, Furrowed tongue OMIM:615726
Gracile Bone Dysplasia
Ankyloglossia, Ascites OMIM:602361
Holoprosencephaly 2
Scoliosis, Median cleft lip and palate, Absent nasal septal cartilage, Solitary median maxillary ... OMIM:157170
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis, Ankyloglossia, Camptodactyly of finger, Narrow mouth, Underdeveloped nasal alae, C... ORPHA:261330
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Scoliosis, Short nose, Oligohydramnios, Underdeveloped nasal alae, Dysphagia, Kyphosis, Ataxia, O... ORPHA:268261
Native American Myopathy
Downturned corners of mouth, Submucous cleft soft palate, Cleft palate, Bifid uvula, High palate,... ORPHA:168572
Distal Monosomy 12Q
Long philtrum, Impaired pain sensation, Bulbous nose, Anteverted nares, Esophageal atresia, Smoot... ORPHA:96149
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Long philtrum, Macroglossia, Wormian bones, Hip subluxation, Short nose, Downturned corners of mo... ORPHA:444077
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Cubitus valgus, Narrow mouth, Downturned corners... OMIM:211910
Primary Fanconi Renotubular Syndrome
Dehydration, Pulmonary fibrosis ORPHA:3337
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Downturned corners of mouth, Ataxia, Cleft palate, Congenital bilateral hip disloc... ORPHA:488642
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Narrow mouth, Elbow dislocation, Thick vermilion borde... ORPHA:2554
Okamoto Syndrome
Open bite, Scoliosis, Short nose, Downturned corners of mouth, Open mouth, Anal stenosis, Oligohy... ORPHA:2729
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Carious teeth, Esophageal stenosis, Narrow mouth, Dysphagia, Abnormal esophagus mo... ORPHA:89842
Treacher Collins Syndrome 1
Narrow mouth, Hypoplasia of the pharynx, Choanal atresia, Wide mouth, Abnormal parotid gland morp... OMIM:154500
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Short nose, Submucous cleft soft palate, Wide nasal bridge, Cleft soft palate, Anteverted nares, ... ORPHA:2282
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Cleft palate, Bifid uvula, Single nari... ORPHA:2250
Semilobar Holoprosencephaly
Scoliosis, Dysphagia, Solitary median maxillary central incisor, Proboscis, Aspiration pneumonia,... ORPHA:220386
Alobar Holoprosencephaly
Scoliosis, Dysphagia, Solitary median maxillary central incisor, Proboscis, Aspiration pneumonia,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Scoliosis, Dysphagia, Solitary median maxillary central incisor, Proboscis, Aspiration pneumonia,... ORPHA:93926
Lobar Holoprosencephaly
Scoliosis, Dysphagia, Solitary median maxillary central incisor, Proboscis, Aspiration pneumonia,... ORPHA:93924
Trichohepatoenteric Syndrome 1
Polyhydramnios, Long philtrum, Narrow mouth, Villous atrophy, Wide mouth, Bifid uvula, Anteverted... OMIM:222470
Lenz-Majewski Hyperostotic Dwarfism
Humeroradial synostosis, Proximal symphalangism of hands, Choanal atresia, Abnormality of the den... OMIM:151050
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enamel hypoplasia, Wide mouth, Abnormality of the dentition, Bifid uvula, Depressed nasal bridge OMIM:615802
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Kyphoscoliosis OMIM:614557
Yunis-Varon Syndrome
Polyhydramnios, Thin vermilion border, Short philtrum, Hydrops fetalis, Abnormality of dental str... ORPHA:3472
Van Esch-O'Driscoll Syndrome
Bifid uvula, Scoliosis, Spina bifida occulta, Pulmonary artery stenosis OMIM:301030
Cowden Syndrome
Scoliosis, Macroglossia, Kyphosis, Ataxia, Furrowed tongue, Colorectal polyposis, High palate, Ha... ORPHA:201
Elsahy-Waters Syndrome
Long philtrum, Delayed eruption of teeth, Multiple impacted teeth, Thick lower lip vermilion, Ana... OMIM:211380
Decreased amplitude of sensory action potentials, Impaired vibratory sensation, Chorea, Dysphagia... ORPHA:2388
Ectodermal Dysplasia-Skin Fragility Syndrome
Carious teeth, Abnormal tongue morphology, Chapped lip, Abnormality of dental morphology, Anoperi... ORPHA:158668
Marden-Walker Syndrome
Scoliosis, Camptodactyly of finger, Narrow mouth, Radioulnar synostosis, Abnormal form of the ver... ORPHA:2461
Meckel Syndrome, Type 1
Oligohydramnios, Natal tooth, Intestinal malrotation, Wide mouth, Abnormality of the larynx, Anal... OMIM:249000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Scoliosis, Dislocated radial head, Craniosynostosis, Narrow mouth, Radioulnar synostosis, Genu re... OMIM:130070
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Genu valgum, Intervertebral disc degeneration, Abnormal hip j... ORPHA:93311
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Short philtrum, Thin vermilion border, Unilateral lung agenesis, Short nose, Downturned corners o... ORPHA:500150
Infantile Bartter Syndrome With Sensorineural Deafness
Polyhydramnios, Dehydration ORPHA:89938
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Polyhydramnios, Camptodactyly of finger, Bulbous nose, Prominent nose, Neoplasm of the tongue, Bi... ORPHA:3047
Lacrimoauriculodentodigital Syndrome
Enamel hypoplasia, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Dysphagia, Abnorm... ORPHA:2363
Smith-Lemli-Opitz Syndrome
Long philtrum, Hip subluxation, Dental crowding, Aganglionic megacolon, Intestinal malrotation, W... OMIM:270400
1Q21.1 Microdeletion Syndrome
Scoliosis, Ankyloglossia, Long philtrum, Bulbous nose, Wide nasal bridge, High palate ORPHA:250989
Trisomy 8P
Abnormal lung lobation, Thin vermilion border, Malrotation of small bowel, Short nose, Recurrent ... ORPHA:264450
Steinfeld Syndrome
Bifid uvula, Median cleft lip and palate, Aplasia of the nose, Abnormal vertebral morphology OMIM:184705
Limb-Mammary Syndrome
Submucous cleft soft palate, Hypodontia, Cleft lip, Cleft palate, Bifid uvula, Cleft hard palate ORPHA:69085
Glossitis, Stomatitis, Steatorrhea, Ascites, Intestinal obstruction ORPHA:97280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Dehydration ORPHA:90794
Blackfan-Diamond Anemia
Adenocarcinoma of the colon, Wide nasal bridge, Nonimmune hydrops fetalis, Cleft lip, High palate... ORPHA:124
Distal Monosomy 15Q
Genu valgum, Short philtrum, Broad nasal tip, Abnormality of the dentition, Thin upper lip vermil... ORPHA:1596
Ring Chromosome 7 Syndrome
Genu valgum, Thin vermilion border, Short philtrum, Narrow naris, Narrow mouth, Anteverted nares,... ORPHA:1449
Wiedemann-Rautenstrauch Syndrome
Narrow mouth, Downturned corners of mouth, Natal tooth, Hypoplastic vertebral bodies, Ataxia, Thi... ORPHA:3455
Frontofacionasal Dysplasia
Short nose, Underdeveloped nasal alae, Midline defect of the nose, Oral cleft, Cleft upper lip, B... OMIM:229400
Chromosome 1P36 Deletion Syndrome
Scoliosis, Long philtrum, Abnormal lung lobation, Delayed closure of the anterior fontanelle, Cam... OMIM:607872
Kawasaki Disease
Glossitis, Cheilitis, Abnormal pulmonary interstitial morphology, Edema, Recurrent pharyngitis, A... ORPHA:2331
Aneurysm-Osteoarthritis Syndrome
Scoliosis, Camptodactyly of finger, Intervertebral disc degeneration, Protrusio acetabuli, Osteoa... ORPHA:284984
Loeys-Dietz Syndrome
Scoliosis, Camptodactyly of finger, Craniosynostosis, Oral cleft, Joint dislocation, Bifid uvula,... ORPHA:60030
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Long philtrum, Hydrops fetalis, Bifid epiglottis, Esophageal atresia, Absent or minimally ossifie... ORPHA:93271
Meester-Loeys Syndrome
Bifid uvula, Pulmonary artery aneurysm, Joint dislocation OMIM:300989
Inflammation of the large intestine, Chapped lip, Glossitis, Abnormality of the elbow, Acute infe... ORPHA:707
Fetal Encasement Syndrome
Protruding tongue, Bilateral trilobed lungs OMIM:613630
Microphthalmia, Syndromic 2
Scoliosis, Long philtrum, Oligodontia, Delayed eruption of teeth, Radioulnar synostosis, Radiculo... OMIM:300166
Intervertebral disc degeneration, Kyphosis, Limitation of knee mobility, Vertebral fusion, Arthro... OMIM:203500
Tetrasomy 9P
Median cleft lip and palate, Abnormal dental enamel morphology, Amelogenesis imperfecta, Short ph... ORPHA:3310
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Carious teeth, Narrow mouth, Erosion of oral mucosa, Dysphagia, Joint contractures... ORPHA:79408
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Thin vermilion border, Delayed eruption of teeth, Impacted tooth, Narrow mouth, Li... ORPHA:740
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bulbous nose, Abnormal form of the vertebral bodies, Thick vermilion border, Prominent nose, Abno... ORPHA:2636
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Scoliosis, Open mouth, Dental crowding, Genu valgum, Abnormality of dental morphology, Submucous ... ORPHA:261537
Mowat-Wilson Syndrome
Scoliosis, Open mouth, Dental crowding, Genu valgum, Abnormality of dental morphology, Ataxia, Su... ORPHA:2152
Pallister-Killian Syndrome
Polyhydramnios, Congenital hip dislocation, Intestinal malrotation, Depressed nasal bridge, Long ... OMIM:601803
Pallister-Hall Syndrome
Bifid epiglottis, Short nose, Oligohydramnios, Recurrent upper and lower respiratory tract infect... ORPHA:672
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Craniosynostosis OMIM:601374
Sillence Syndrome
Scoliosis, Platyspondyly, Intervertebral disc degeneration, Abnormal vertebral morphology, Flat a... ORPHA:3168
Loeys-Dietz Syndrome 1
Scoliosis, Craniosynostosis, Pulmonary artery aneurysm, Cleft palate, Bifid uvula, Eosinophilic i... OMIM:609192
Digeorge Syndrome
Scoliosis, Short philtrum, Cleft palate, Bifid uvula, High palate, High, narrow palate OMIM:188400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Scoliosis, Open mouth, Dental crowding, Genu valgum, Abnormality of dental morphology, Submucous ... ORPHA:261552
Loeys-Dietz Syndrome 3
Scoliosis, Intervertebral disc degeneration, Craniosynostosis, Protrusio acetabuli, Hip osteoarth... OMIM:613795
Loeys-Dietz Syndrome 2
Scoliosis, Spontaneous pneumothorax, Craniosynostosis, Protrusio acetabuli, Pulmonary artery aneu... OMIM:610168
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Lambdoidal craniosynostosis, Microglossia, Cleft palate, Bifid uvul... OMIM:607932
Atypical Werner Syndrome
Thin vermilion border, Intervertebral disc degeneration, Neoplasm of the oral cavity, Chondrocalc... ORPHA:79474


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 Sall3

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 Sall3.

No publications found that use IMPC mice or data for Sall3.

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MGI Allele Allele Type Produced
Sall3tm460723(Ifitm2_intron_L1L2_GT2_LF2A_LacZ_BetactP_neo) Targeting vectors
Sall3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells