Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
Synonyms:
PHAPI2a,  PAL31,  2410015B15Rik

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 Anp32b 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 Anp32b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Trypsinogen Deficiency
Hypoproteinemia, Failure to thrive OMIM:614044
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Recurren... OMIM:616726
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, High-frequency hearing impairment, Atelectasis, Chronic sinusitis, Otitis m... OMIM:300455
Prune Belly Syndrome
Scoliosis, Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Recurrent urinary tract... ORPHA:2970
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate, Abnormality ... ORPHA:718
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Pierre Robin Syndrome
Pierre-Robin sequence, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cle... OMIM:261800
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Sensorineural hearing impairment, Hydronephrosis,... ORPHA:2838
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Abnormal lung morphology, Respiratory distress, Abnormal respi... ORPHA:70589
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Stillbirth OMIM:152800
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality ... ORPHA:1458
Tracheobronchopathia Osteochondroplastica
Esophagitis, Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Increased alph... ORPHA:86816
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Hydroureter, Abnormality of the bladder, Hypoplasia of penis, Abnormality of the uppe... ORPHA:2547
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Hydroureter, E... OMIM:616367
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Auriculocondylar Syndrome 2
Apnea, Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle apl... OMIM:614669
Congenital Laryngomalacia
Laryngomalacia, Non-midline cleft lip, Cleft palate ORPHA:2373
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis, Sensorineural hearing impairment, Hydronephrosis, Hydroureter OMIM:264140
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Respiratory failure, Death in infancy, Hydroureter OMIM:618240
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate OMIM:258320
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Hepatocellular carcinoma, Acute... ORPHA:247585
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Recurrent otitis media, Non-midline cleft lip, Submucous cleft of soft ... ORPHA:1991
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Hydroureter, Natal tooth, Choanal atresia, High palate, Short ne... OMIM:259775
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Ménétrier Disease
Multiple gastric polyps, Hypoproteinemia, Weight loss, Stomach cancer, Hypoalbuminemia ORPHA:2494
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Hearing impairment, Respiratory insufficiency due to muscle weakness, Kyphosis OMIM:617087
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Hardikar Syndrome
Hydroureter, Portal hypertension, Intestinal malrotation, Recurrent urinary tract infections, Hea... OMIM:612726
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia OMIM:616834
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Marden-Walker Syndrome
Scoliosis, Narrow mouth, Hydroureter, Epispadias, Renal hypoplasia/aplasia, Abnormality of the ki... ORPHA:2461
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Weight loss, Lymphoma, Hypoalbuminemia, Hypomagn... ORPHA:398063
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Czeizel-Losonci Syndrome
Hypoplastic helices, Hydrocephalus, Low-set, posteriorly rotated ears, Congenital megaureter, Abn... ORPHA:2437
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal sputum, Dyspnea, Dysphagia, Cough, Abnormal pleura morpholo... ORPHA:2357
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Lower Limb Malformation-Hypospadias Syndrome
Macrotia, Low-set, posteriorly rotated ears, Sacral dimple, Abnormality of the ureter, Respirator... ORPHA:2487
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, High palate, Kyphosis OMIM:611225
Pallister-Hall Syndrome
Hydroureter, Atresia of the external auditory canal, Natal tooth, Choanal atresia, Hemivertebrae,... OMIM:146510
Frontometaphyseal Dysplasia 1
Scoliosis, Delayed eruption of teeth, Anteriorly placed odontoid process, Hydroureter, Persistenc... OMIM:305620
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Nephrolithiasis, Hydroureter OMIM:617219
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Chronic sinusitis, Hydrocephal... ORPHA:244
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy OMIM:232700
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Koolen-De Vries Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow palate, Bulbous nose, Underdeveloped nasal a... ORPHA:96169
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Narrow mouth, Abnormal renal collecting system morphology, Overfolded helix, Hydroureter, Periphe... ORPHA:280633
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Anal atresia, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Omenn Syndrome
Hypoproteinemia, Failure to thrive OMIM:603554
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Renal hypoplasia, Low-set ears, Renal dysplasia, Neonatal death, Pulmon... OMIM:236500
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Weight loss, B-cell lymphoma, Verrucae, Hypoalbuminemia, Failure t... ORPHA:90362
Trisomy 1Q
Narrow mouth, Congenital megaureter, Ventriculomegaly, Abnormality of the outer ear, Multicystic ... ORPHA:261344
Carpenter Syndrome 1
Scoliosis, Agenesis of permanent teeth, Hydroureter, Conductive hearing impairment, Abnormality o... OMIM:201000
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Aspiration pneumoni... ORPHA:70588
Familial Visceral Myopathy
Megacystis, Hydroureter, Low-set, posteriorly rotated ears, Aganglionic megacolon, Vesicoureteral... ORPHA:2604
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Ureteral agenesis, Stillbirth OMIM:274210
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Overweight, Small for gestational age, Increased circulating free ... ORPHA:26793
Secondary Intestinal Lymphangiectasia
Neoplasm, Hypocalcemia, Hypoproteinemia ORPHA:90363
Auriculocondylar Syndrome 1
Apnea, Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle apl... OMIM:602483
Ring Chromosome 8 Syndrome
Short nose, Abnormal palate morphology, Abnormality of the ureter, Hydronephrosis, Round ear, Ant... ORPHA:1450
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Prominent nasal bridge, Long philtrum, Thin vermilion border, Bulbous nose, Downturned corners of... OMIM:610759
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Caudal Regression Sequence
Scoliosis, Renal agenesis, Hypertension, Abnormality of the ureter, Oral cleft, Anal atresia, Ves... ORPHA:3027
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Sensorineural hearing impairment, Short neck ORPHA:2744
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Vertebral segmentation defect, Hearing impairment, Hydronephro... ORPHA:1926
Rowley-Rosenberg Syndrome
Aminoaciduria, Hypertension, Atelectasis, Recurrent pneumonia, Pulmonary arterial hypertension OMIM:268500
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Respiratory insufficiency, Multicy... ORPHA:2973
Prune Belly Syndrome
Hydroureter, Urethral valve, Xerostomia, Anal atresia, Hydronephrosis, Congenital posterior ureth... OMIM:100100
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Hydroureter, Recurrent urinary tract infections, Duplicated collecting system,... ORPHA:79404
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Hydronephrosis, Hydroureter OMIM:598500
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Death in infancy, Unilateral renal agenesis, Sacral dimple, Vertebral f... OMIM:618845
Cloacal Exstrophy
Horseshoe kidney, Hydroureter, Intestinal malrotation, Intestinal duplication, Hemivertebrae, Ure... ORPHA:93929
Microphthalmia, Lenz Type
Scoliosis, Delayed eruption of teeth, Hyperlordosis, Abnormality of dental morphology, Hydrourete... ORPHA:568
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Scoliosis, Morphological abnormality of the gastrointestinal tract, Downturned corners of mouth, ... ORPHA:369837
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Kyphosis, Decreased body weight, Posteriorly rotated ears, Small for gestational age OMIM:618392
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... OMIM:236730
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Weaver-Williams Syndrome
Protruding ear, Narrow mouth, Cleft palate ORPHA:3448
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Simpson-Golabi-Behmel Syndrome
Scoliosis, Hydroureter, Death in infancy, Abnormality of the helix, Ureteral duplication, High, n... ORPHA:373
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Scoliosis, Macroglossia, Broad nasal tip, Hydroureter, Bilateral renal agenesis, Deep philtrum, K... OMIM:619194
X-Linked Intellectual Disability, Abidi Type
Non-midline cleft lip, Hearing impairment, Protruding ear, Cleft palate, Prominent nasal bridge ORPHA:85273
Fanconi Anemia
Scoliosis, Hydroureter, Recurrent urinary tract infections, Choanal atresia, Weight loss, Renal i... ORPHA:84
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Spinal rigi... OMIM:300718
Mcdonough Syndrome
Open bite, Scoliosis, Short philtrum, Underdeveloped nasal alae, Macrotia, Low-set, posteriorly r... ORPHA:2471
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Intestinal malrotation, Fetal megacystis, Hydroureter OMIM:249210
Dengue Fever
Hypoproteinemia ORPHA:99828
Sandhoff Disease
Kyphosis, Hearing impairment, Congestive heart failure, Failure to thrive, Recurrent respiratory ... ORPHA:796
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Thin vermilion border, Open mouth, Overfolded helix, Ureteral hypoplasia, Vesicoureteral reflux, ... OMIM:614080
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Short neck OMIM:168400
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Re... ORPHA:70587
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Pulmonary insufficiency, Intestinal malrotation... OMIM:265380
Caudal Duplication
Abnormal penis morphology, Intestinal duplication, Vertebral segmentation defect, Renal hypoplasi... ORPHA:1756
Mental Retardation, Autosomal Dominant 23
Scoliosis, Long philtrum, Hyperlordosis, Drooling, Downturned corners of mouth, Dental crowding, ... OMIM:615761
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Conical incisor, Hydroureter, Emphysema, Renal ... ORPHA:289
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Oligodontia, Everted lower lip vermilion, Kyphosis, Anodontia, Wide nose, Obesity ORPHA:276630
Nephrogenic Diabetes Insipidus
Hyposthenuria, Hydroureter, Hypovolemia, Functional abnormality of the bladder, Failure to thrive... ORPHA:223
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Failure to thrive in infancy, Hypocholest... OMIM:618156
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhag... ORPHA:340
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears... OMIM:616898
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Recurrent respiratory infections, Depressed nasal bridge ORPHA:85288
Metatropic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Low-set, poster... ORPHA:2635
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Scoliosis, Platyspondyly, Thick lower lip vermilion, Hypoplasia of the primary... OMIM:234250
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Hydroureter, Abnormality of the gastrointestinal tract, Death in infancy, Intestinal ... ORPHA:2241
Faciocardiorenal Syndrome
Scoliosis, Horseshoe kidney, Hydroureter, Hypodontia, Wide nasal bridge, Cleft palate, Hypoplasti... OMIM:227280
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness, Low-set ears, Neonatal dea... OMIM:611890
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Dysphagia, Sensorineural hearing impairment, Hydronephrosis, Car... OMIM:222300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Renal insufficiency, Arrhythmia, Narrow palate, Dilated cardi... OMIM:608836
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Kyphosis, Ventriculomegaly, Abnormality of the pinna, Respiratory insufficiency due to... OMIM:618291
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Cleft palate... OMIM:612290
Waardenburg Syndrome Type 3
Tracheomalacia, Tented upper lip vermilion, Atelectasis, Hearing impairment, Narrow nasal bridge ORPHA:896
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Macrotia, Kyphosis, Thick vermilion border, Hypodontia, High palate OMIM:617061
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Thoracolumbar scoliosis, Hydronephrosis, Spina bifida occulta, Hydrocephalus OMIM:183802
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Oeis Complex
Duplicated colon, Renal agenesis, Sacral segmentation defect, Hydroureter, Intestinal malrotation... OMIM:258040
Penile Agenesis
Unilateral renal hypoplasia, Short nose, Hydroureter, Rectal fistula, Bilateral renal agenesis, C... ORPHA:49
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy OMIM:618234
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Long philtrum, Short philtrum, Narrow mouth, Kyphosis, Abnormality of the dentition, L... OMIM:618443
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Johanson-Blizzard Syndrome
Hypoproteinemia, Failure to thrive ORPHA:2315
Shashi-Pena Syndrome
Scoliosis, Kyphosis, Ventriculomegaly, Low-set ears, Posteriorly rotated ears, Broad nasal tip OMIM:617190
Mental Retardation, Autosomal Dominant 26
Scoliosis, Short philtrum, Narrow mouth, Kyphosis, Wide mouth, Thick vermilion border, Low-set ea... OMIM:615834
Bresek Syndrome
Scoliosis, Hypoplasia of the bladder, Renal hypoplasia, Aganglionic megacolon, Hemivertebrae, Low... ORPHA:85284
Branchiootorenal Syndrome 1
Abnormal renal collecting system morphology, Renal steatosis, Intestinal malrotation, Stenosis of... OMIM:113650
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Cleft Lip/Palate
Agenesis of lateral incisor, Conductive hearing impairment, Recurrent otitis media, Oral cleft, P... ORPHA:199306
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Short philtrum, Short nose, Everted lower lip vermilion, Kyphosis, Wide mouth, Thin up... ORPHA:2429
Ck Syndrome
Scoliosis, Slender build, Hyperlordosis, Dental crowding, Kyphosis, Posteriorly rotated ears, Hig... OMIM:300831
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Morphological abnormality of the gastrointestinal tract, Hydrocephalus, Abnormal form ... ORPHA:1834
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Hydroureter, Agenesis of maxillary incisor, Ate... ORPHA:1401
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Hydroureter, Duplicated collecting system, Choanal atresia, Xerostomia, Vesicouret... OMIM:604292
Coffin-Siris Syndrome 1
Scoliosis, Hydroureter, Intestinal malrotation, Choanal atresia, Spina bifida occulta, High palat... OMIM:135900
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Cockayne Syndrome Type 3
Adult onset sensorineural hearing impairment, Enamel hypoplasia, Carious teeth, Neurogenic bladde... ORPHA:90324
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Oligodontia, Hydroureter, Duplicated collecting system, Choanal atresia, Xerostomi... OMIM:129900
Crisponi Syndrome
Scoliosis, Long philtrum, Narrow mouth, Kyphosis, Death in infancy, Respiratory insufficiency, Su... ORPHA:1545
Noonan Syndrome 4
Scoliosis, Thickened helices, Short neck, Ureteral duplication, Wide mouth, Thick vermilion borde... OMIM:610733
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Scoliosis, Hyperlordosis, Macroglossia, Reduced ejection fraction, Arrhythmia, Hypoventilation, O... ORPHA:258
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Incomplete cleft of the upper lip, Underdeveloped nasal alae, Deep philtrum, Kyphosis, Intestinal... ORPHA:77300
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Dysphagia, Kyphosis, Spinal rigidity OMIM:618323
Autosomal Recessive Spastic Paraplegia Type 53
Ventriculomegaly, Kyphosis, Hearing impairment, Failure to thrive, Abnormality of the auditory canal ORPHA:319199
Fetal Akinesia Deformation Sequence 4
Kyphosis, Posteriorly rotated ears, Low-set ears, High palate, Short neck OMIM:618393
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Kyphosis, Respiratory insufficiency, Low-set ears, High palate, Short neck, Prominent ... ORPHA:178148
3C Syndrome
Scoliosis, Death in infancy, Intestinal malrotation, Hemivertebrae, Oral cleft, High, narrow pala... ORPHA:7
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pulmonary fibrosis, Bronchiolitis, Dysphagia, Exertional dyspnea, Atelectasis, Right bundle branc... ORPHA:254361
Autosomal Dominant Hyper-Ige Syndrome
Scoliosis, Delayed eruption of teeth, Cough, Chronic otitis media, Abnormality of the dentition, ... ORPHA:2314
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias, Anterior... OMIM:600057
Zimmermann-Laband Syndrome 2
Macroglossia, Underdeveloped nasal alae, Deep philtrum, Kyphosis, Thick vermilion border, Wide na... OMIM:616455
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Carious teeth, Ovoid vertebral bodies, Respiratory insufficiency, Repeated pneumothora... ORPHA:536467
Potocki-Lupski Syndrome
Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Noonan Syndrome 9
Pulmonic stenosis, Short neck, Hydroureter OMIM:616559
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Respiratory distress, Conductive hearing impairment, Laryngeal hypoplasia... OMIM:202650
Brachyolmia Type 1, Hobaek Type
Scoliosis, Kyphosis, Back pain, Intervertebral space narrowing, Squared-off platyspondyly, Short ... OMIM:271530
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Anteverted nares, Hydrour... OMIM:269150
Baraitser-Winter Cerebrofrontofacial Syndrome
Scoliosis, Long philtrum, Thin vermilion border, Hydroureter, Long nose, Wide mouth, Wide nasal b... ORPHA:2995
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bulbous nose, Hydroureter, Short neck, Abnormality of the kidney, Low-set ears, Abnormality of th... ORPHA:2636
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Oculocerebrorenal Syndrome Of Lowe
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Narrow palate, Hematuria,... ORPHA:534
Aase-Smith Syndrome I
Open mouth, Death in infancy, Abnormality of the pinna, Cleft palate, Hydrocephalus, Dandy-Walker... OMIM:147800
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Abnormality of the dentition, Aplasia/Hypoplasia of the lungs, Hypospadias, ... ORPHA:1548
Glycogen Storage Disease Due To Acid Maltase Deficiency
Scoliosis, Sleep apnea, Exertional dyspnea, Left ventricular outflow tract obstruction, Respirato... ORPHA:365
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Bulbous nose, Death in infancy, Wide nasal bridge, Cupped ear, Cleft palate ORPHA:93946
Distal 16P11.2 Microdeletion Syndrome
Narrow mouth, Kyphosis, Aganglionic megacolon, Obesity, Vesicoureteral reflux, Chronic kidney dis... ORPHA:261222
Mental Retardation, Autosomal Dominant 57
Scoliosis, Narrow mouth, Kyphosis, Posteriorly rotated ears, Broad nasal tip, High palate, Promin... OMIM:618050
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Alpha-Mannosidosis
Open bite, Scoliosis, Macroglossia, Narrow palate, Macrotia, Kyphosis, Chronic otitis media, Recu... ORPHA:61
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Re... ORPHA:107
Orofaciodigital Syndrome V
Scoliosis, Horseshoe kidney, Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, ... OMIM:174300
Borjeson-Forssman-Lehmann Syndrome
Scoliosis, Cervical spinal canal stenosis, Macrotia, Scheuermann-like vertebral changes, Kyphosis... OMIM:301900
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Gastrointestinal hemorrhage, Neoplasm of the rectum... ORPHA:2869
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia OMIM:618453
Auriculocondylar Syndrome
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Hamartoma of tongue, Question mark ear... ORPHA:137888
Distal Monosomy 10Q
Acute kidney injury, Vesicoureteral reflux, Spina bifida occulta, High palate, Abnormality of the... ORPHA:96148
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis, Sensorineural hearing impairment, Obesity OMIM:616756
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Short philtrum, Kyphosis, Protruding ear, Cleft palate ORPHA:85317
15Q24 Microdeletion Syndrome
Scoliosis, Long philtrum, Microphallus, Narrow mouth, Abnormal palate morphology, Kyphosis, Smoot... ORPHA:94065
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Long philtrum, Short nose, Kyphosis, High palate ORPHA:2598
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Cystic renal dysplasia, Renal hypoplasia, Natal tooth, Intestinal ma... OMIM:269860
Masa Syndrome
Hyperlordosis, Kyphosis, Ventriculomegaly, Hydrocephalus OMIM:303350
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Respiratory insufficiency, Enlarged vestibular aqueduct, Sens... ORPHA:705
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Non-midline cleft lip, Ora... OMIM:141400
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Vici Syndrome
Death in infancy, Renal tubular acidosis, Ureteral atresia, Sensorineural hearing impairment, Hig... ORPHA:1493
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ventriculomegaly, Ectopic kidney, Renal agenesis, Ureteral duplication, Hydroce... OMIM:602200
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Renal insufficiency, Kyphosis, Glomerulonephritis, High palate, High, narrow palate OMIM:248760
Fryns Syndrome
Intestinal malrotation, Abnormality of the helix, Ureteral duplication, Short neck, Long philtrum... OMIM:229850
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Meckel Syndrome 12
Renal hypoplasia, Ureteral hypoplasia, Low-set ears, Wide nasal bridge, Bifid uvula, Renal agenes... OMIM:616258
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Abnormal esophagus morphology, Pneumon... ORPHA:1163
22Q11.2 Deletion Syndrome
Scoliosis, Small earlobe, Carious teeth, Abnormal dental enamel morphology, Narrow mouth, Bulbous... ORPHA:567
Clark-Baraitser syndrome
Scoliosis, Kyphosis, Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated median t... OMIM:300602
Treacher Collins Syndrome 2
Conductive hearing impairment, Choanal atresia, Microtia, Cleft palate OMIM:613717
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Short philtrum, Narrow mouth, Bifid ureter, Aortic regurgitation, Bronchiectasis, Steatorrhea, De... OMIM:601347
Lymphangioleiomyomatosis
Renal neoplasm, Restrictive ventilatory defect, Multiple renal cysts, Abnormal urinary color, Hem... ORPHA:538
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Kyphosis, Respiratory insufficiency, Wide nasal bridge, Thoracolumbar scoliosis, R... OMIM:313420
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Usher Syndrome Type 1
Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea morphology,... ORPHA:231169
Emanuel Syndrome
Scoliosis, Long philtrum, Delayed eruption of primary teeth, Renal agenesis, Dental crowding, Mac... OMIM:609029
Atresia Of Urethra
Megacystis, Hydroureter, Pulmonary insufficiency, Recurrent urinary tract infections, Renal dyspl... ORPHA:105
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Arrhythmia, Abnormal vocal cord morphology, Low-set, posteriorly rotated ears, Kyphosi... ORPHA:3191
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Choanal atresia, Low-set ears, Rectovaginal fistula, Anal atresia, Ureter... OMIM:270420
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Gastroesophageal reflux, Depressed nasal bridge OMIM:300434
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dyspnea, Dysphagia, Kyphosis, Respiratory insufficiency due to muscle weakness, Spina... ORPHA:352447
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Microphthalmia, Syndromic 1
Scoliosis, Agenesis of maxillary lateral incisor, Overfolded helix, Dental crowding, Hydroureter,... OMIM:309800
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Short mandibular rami, Dental malocclusion, Microtia, Tongue... OMIM:141300
Trisomy 13
Scoliosis, Long philtrum, Abnormality of the antihelix, Multiple renal cysts, Abnormal lung lobat... ORPHA:3378
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Short philtrum, Everted lower lip vermilion, Kyphosis, Ventriculomegaly, Tented upper ... OMIM:616449
4Q21 Microdeletion Syndrome
Scoliosis, Thin vermilion border, Short philtrum, Downturned corners of mouth, Kyphosis, Ventricu... ORPHA:238750
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Respiratory insufficiency, Vesicoureteral reflux, Renal insufficiency, Micropenis, Unilateral ren... OMIM:617641
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Low-set, posteriorly rotated ears, Abnormality of the ureter, Hi... ORPHA:1035
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Conductive hearing impairment, Abnormality of the pinna, Cervical C2/C3 vertebral fusi... OMIM:214300
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Scoliosis, Carious teeth, Low-set, posteriorly rotated ears, Abnormal palate morpholog... ORPHA:2617
Atkin-Flaitz Syndrome
Scoliosis, Kyphosis, Maxillary lateral incisor microdontia, Broad nasal tip, Exaggerated median t... OMIM:300431
19P13.12 Microdeletion Syndrome
Scoliosis, Long philtrum, Thin vermilion border, Arrhythmia, Aortic regurgitation, Conductive hea... ORPHA:254346
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Hypocholesterolemia, Decreased LDL cholesterol conce... ORPHA:96180
Fibrosis Of Extraocular Muscles, Congenital, 3C
Thin upper lip vermilion, Kyphosis OMIM:609384
15Q14 Microdeletion Syndrome
Scoliosis, Long philtrum, Short philtrum, Kyphosis, Smooth philtrum, Abnormality of the dentition... ORPHA:261190
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Scoliosis, Ureteral triplication, Hemivertebrae, Low-set ears, Wide nasal bridge, Hydronephrosis,... OMIM:104350
Ring Chromosome 10 Syndrome
Long philtrum, Abnormality of the antihelix, Thin vermilion border, Aganglionic megacolon, Wide n... ORPHA:1438
Smith-Magenis Syndrome
Scoliosis, Open mouth, Failure to thrive in infancy, Abnormal tracheobronchial morphology, Renal ... ORPHA:819
Zimmermann-Laband Syndrome 3
Kyphosis, Wide nasal bridge, Gingival overgrowth, Broad nasal tip, Bifid uvula, High palate, Thic... OMIM:618658
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Anal atresia, Hydronephrosis, Polycysti... OMIM:236700
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Wieacker-Wolff Syndrome, Female-Restricted
Scoliosis, Long philtrum, Drooling, Downturned corners of mouth, Low-set, posteriorly rotated ear... OMIM:301041
Jaberi-Elahi Syndrome
Scoliosis, Short nose, Kyphosis, Abnormality of the dentition, Low-set ears, Protruding ear, Tria... OMIM:617988
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Bulbous nose, Kyphosis, Ventriculomegaly, Wide mouth, Abnormality of the pinna, Abd... OMIM:300354
Mend Syndrome
Kyphosis, Low-set ears, Aortic valve stenosis, High palate, Prominent nasal bridge, Hydrocephalus... OMIM:300960
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery, Kyphosis, Death in infancy, Abnormal form of the vertebral b... ORPHA:1354
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Long philtrum, Anomalous pulmonary venous return, Anteverted nares, Abnormal form of t... ORPHA:2311
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Urban-Rogers-Meyer Syndrome
Abnormality of the philtrum, Overfolded helix, Kyphosis, Aplasia/Hypoplasia of the earlobes, Abno... ORPHA:3409
Trisomy 20P
Scoliosis, Abnormality of the antihelix, Thin vermilion border, Downturned corners of mouth, Shor... ORPHA:261318
Cdkl5-Deficiency Disorder
Scoliosis, Abnormal respiratory system physiology, Everted lower lip vermilion, Deep philtrum, Ky... ORPHA:505652
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hypocholesterolemia OMIM:618810
Crouzon Disease
Narrow palate, Narrow internal auditory canal, Conductive hearing impairment, Choanal atresia, Re... ORPHA:207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Macroglossia, Restrictive ventilatory defect, Kyphosis, Ventriculomegal... OMIM:606612
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Anteverted nares, Conductive hearing impairment, Pierre-Robin sequence,... OMIM:108300
Thanatophoric Dysplasia
Platyspondyly, Hydrocephalus, Kyphosis, Ventriculomegaly, Respiratory insufficiency, Low-set ears... ORPHA:2655
Cardiac Valvular Defect, Developmental
Hydroureter, Tricuspid regurgitation, Urethral diverticulum, Hydronephrosis, Mitral stenosis OMIM:212093
Marden-Walker Syndrome
Scoliosis, Long philtrum, Short neck, Narrow mouth, Zollinger-Ellison syndrome, Anteverted nares,... OMIM:248700
Juvenile Polyposis Syndrome
Hypoproteinemia, Hamartomatous polyposis, Neoplasm of the gastrointestinal tract, Hemangioblastom... ORPHA:2929
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Narrow mouth, Respiratory insufficiency, Abnormality of the ureter, Aplasi... ORPHA:1046
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Platyspondyly, Abnormal dental enamel morphology, Abnormality of the vertebral column, Abnormal v... ORPHA:2273
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Restrictive ventilatory defect, Kyphosis, Abnormal left v... OMIM:607155
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow mouth, Low-set, posteriorly rotated ears, Sm... ORPHA:1133
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormality of the antihelix, Abnormal dental enamel morphology, Abnormal form of the ... ORPHA:2916
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Conical tooth, Microtia, first degree, Profound sensorineural hearing impairment... OMIM:610706
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, High palate, Kyphosis, Prominent nasal bridge OMIM:300676
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormality of dental morphology, Kyphosis, Abnormality of the ureter, Low-set ear... ORPHA:2522
Beckwith-Wiedemann Syndrome
Sleep apnea, Hypercalciuria, Vesicoureteral reflux, Large intestinal polyposis, Ureteral duplicat... ORPHA:116
Diphallia
Scoliosis, Duplicated colon, Renal malrotation, Horseshoe kidney, Abnormality of the gastrointest... ORPHA:227
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Short philtrum, Narrow mouth, Kyphosis, Wide nasal bridge, Low-set ears, Small for ges... ORPHA:352490
Harrod Syndrome
Scoliosis, Narrow mouth, Kyphosis, Multicystic kidney dysplasia, Protruding ear, Failure to thriv... ORPHA:2115
Koolen-De Vries Syndrome
Scoliosis, Pear-shaped nose, Narrow palate, Bulbous nose, Open mouth, Overfolded helix, Recurrent... OMIM:610443
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Abnormality of the vertebral column, Abnormal vertebral morphology, Conductive hear... OMIM:239800
Pierson Syndrome
Hypoproteinemia OMIM:609049
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia, Cleft palate OMIM:243440
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Sleep apnea, Hydrocephalus, Kyphosis, Gastroesophageal reflux, Central apnea, Lumb... OMIM:616482
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Genitopalatocardiac Syndrome
Scoliosis, Downturned corners of mouth, Kyphosis, Non-midline cleft lip, Multicystic kidney dyspl... ORPHA:2075
Frank-Ter Haar Syndrome
Scoliosis, Delayed eruption of teeth, Short philtrum, Beaking of vertebral bodies, Kyphosis, Wide... ORPHA:137834
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Everted lower lip vermilion, Kyphosis, Low-set ears, Posteriorly rotated ears, Promine... OMIM:300280
Zygomycosis
Pericarditis, Cough, Ileitis, Melena, Sinusitis, Myocarditis, Renal insufficiency, Air crescent s... ORPHA:73263
Disorder Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Short philtrum, Short nose, Downturned corners of mouth, Low-set, posterio... ORPHA:2983
Dystonia, Juvenile-Onset
Achalasia, Cleft palate, Sensorineural hearing impairment, Small for gestational age, Cleft upper... OMIM:607371
Esophageal Atresia
Scoliosis, Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Intest... ORPHA:1199
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Macroglossia, Dysphagia, Kyphosis, Achalasia, Oral cleft, Sensorineural hearing impair... ORPHA:79107
Schaaf-Yang Syndrome
Scoliosis, Sleep apnea, Abnormality of the philtrum, Open mouth, Kyphosis, Gastroesophageal reflu... OMIM:615547
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Aortic regurgitation, Kyphosis, High, narrow palate, Hydrocephalus ORPHA:2181
Diastrophic Dwarfism
Scoliosis, Hypoplastic cervical vertebrae, Overfolded helix, Abnormal form of the vertebral bodie... ORPHA:628
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Macroglossia, Abnormality of the antihelix, Bulbous nose, Short nose, Excessive saliva... ORPHA:261144
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Sensorineural hearing impairment, Cleft lip, Cleft palate OMIM:612370
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Short nose, Kyphosis, Wide mouth, Low-set ears, Polycystic kidney dysplasia, Failu... OMIM:608776
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Hearing impairment, Kyphosis ORPHA:101075
Ullrich Congenital Muscular Dystrophy 1
Slender build, Scoliosis, Kyphosis, Respiratory insufficiency, Respiratory insufficiency due to m... OMIM:254090
Distal Tetrasomy 15Q
Scoliosis, Horseshoe kidney, Hydrocephalus, Kyphosis, Dandy-Walker malformation, Low-set ears, Cu... ORPHA:314588
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Kyphosis OMIM:600175
Schinzel-Giedion Syndrome
Scoliosis, Abnormality of the stapes, Failure to thrive in infancy, Abnormality of the helix, Hig... ORPHA:798
Baralle-Macken Syndrome
Urinary incontinence, High, narrow palate, Kyphosis, Obesity OMIM:619255
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Abnormal form of the vertebral bodies, Kyphosis, Pulmonic stenosis, Cl... ORPHA:3098
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Wieacker-Wolff Syndrome
Scoliosis, Long philtrum, Hyperlordosis, Apnea, Drooling, Kyphosis, Smooth philtrum, Low-set ears... OMIM:314580
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Hematuria, Dyspnea, Pulmonary fibrosi... ORPHA:90060
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Igg4-Related Kidney Disease
Hematuria, Acute kidney injury, Pericarditis, Pleuritis, Interstitial pneumonitis, Urinary bladde... ORPHA:449395
Relapsing Polychondritis
Chondritis of pinna, Vertigo, Hematuria, Pericarditis, Dyspnea, Large vessel vasculitis, Cough, A... ORPHA:728
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Short neck, Hydrocephalus, Dermatan sulfate excretion in... OMIM:309900
Anti-Glomerular Basement Membrane Disease
Hematuria, Cough, Persistence of primary teeth, Glomerulopathy, Respiratory insufficiency, Hemopt... ORPHA:375
Kleefstra Syndrome 2
Bifid uvula, Scoliosis, Everted lower lip vermilion, Kyphosis OMIM:617768
Harrod Syndrome
Malrotation of small bowel, Narrow mouth, Macrotia, Long nose, Dental malocclusion, Aganglionic m... OMIM:601095
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
16Q24.3 Microdeletion Syndrome
Scoliosis, Long philtrum, Dysphagia, Kyphosis, Chronic otitis media, Ventriculomegaly, Wide mouth... ORPHA:261250
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Fryns Syndrome
Intestinal malrotation, Vesicoureteral reflux, High palate, Short neck, Median cleft lip, Long ph... ORPHA:2059
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Baller-Gerold Syndrome
Scoliosis, Narrow mouth, Short nose, Conductive hearing impairment, Failure to thrive in infancy,... ORPHA:1225
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Scoliosis, Accessory oral frenulum, Crossed fused renal ectopia, Abnormality o... ORPHA:2919
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Unilateral rena... ORPHA:411709
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... ORPHA:14
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Oral ulcer, Pleural effusion, C... ORPHA:3392
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Long philtrum, Morphological abnormality of the gastrointestinal tract, Downturned cor... ORPHA:404440
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Cough, Nasal polyposis, Weight loss, Respiratory insufficiency, Myocarditis, Sinusitis... ORPHA:183
Trisomy 9P
Scoliosis, Impacted tooth, Downturned corners of mouth, Dental crowding, Macrotia, Kyphosis, Non-... ORPHA:236
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Achondroplasia
Thoracolumbar kyphosis, Restrictive ventilatory defect, Cervical spinal canal stenosis, Obstructi... ORPHA:15
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Carious teeth, Platyspondyly, Restrictive ventilatory defect, Recurrent... OMIM:253010
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Metatropic Dysplasia
Scoliosis, Platyspondyly, Anisospondyly, Long coccyx, Kyphosis, Respiratory insufficiency, Caudal... OMIM:156530
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Hypoplasia of the odontoid process ORPHA:93315
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dyspnea, Kyphosis, Respiratory insufficiency, Spinal rigidity, Spinal deformities, Di... OMIM:615084
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Atlantoaxial instability, Platyspondyly, Restrictive ventilatory defect, Respiratory d... OMIM:183900
Bethlem Myopathy 2
Kyphosis OMIM:616471
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Thanatophoric Dysplasia Type 2
Platyspondyly, Abnormality of the kidney, Kyphosis, Ventriculomegaly, Respiratory insufficiency, ... ORPHA:93274
Mucopolysaccharidosis Type 6
Macroglossia, Short neck, Recurrent upper respiratory tract infections, Mucopolysacchariduria, Ov... ORPHA:583
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Carious teeth, Platyspondyly, Restrictive ventilatory defect, Recurrent... OMIM:253000
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Small for gestational age, Restrictive ventilatory defect OMIM:618484
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Hearing impairment, Kyphosis ORPHA:101078
Fg Syndrome Type 1
Open mouth, Dental crowding, Choanal atresia, Stenosis of the external auditory canal, Sensorineu... ORPHA:93932
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Downturned corners of mouth, Tricuspid regurgitation, Triangular mouth, Vesicoureteral... OMIM:616894
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Laryngotracheomalacia, Renal hypoplasia, Absence of the sacrum, Sensorineural... OMIM:617660
Joubert Syndrome With Renal Defect
Scoliosis, Apnea, Low-set, posteriorly rotated ears, Abnormal pattern of respiration, Aganglionic... ORPHA:220497
Coffin-Lowry Syndrome
Scoliosis, Sleep apnea, Narrow palate, Open mouth, Sensorineural hearing impairment, High palate,... ORPHA:192
2P15P16.1 Microdeletion Syndrome
Scoliosis, Narrow mouth, High palate, Long philtrum, Ventriculomegaly, Low-set ears, Prominent na... ORPHA:261349
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Narrow internal auditory canal, Respiratory distress, Low-set, posteriorly rotated ... ORPHA:990
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal larynx morphology, R... ORPHA:333
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Hematuria, Urinary bladder inflammation, Renal duplication, Congenital pyloric... ORPHA:79403
Saethre-Chotzen Syndrome
Open bite, Scoliosis, Abnormality of the antihelix, Hyperlordosis, Narrow palate, Sleep apnea, Na... ORPHA:794
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Slender build, Short philtrum, Scoliosis, Narrow palate, Open mouth, Macrotia, ... ORPHA:364028
Brown-Vialetto-Van Laere Syndrome 1
Scoliosis, Dyspnea, Respiratory distress, Dysphagia, Kyphosis, Respiratory insufficiency, Sensori... OMIM:211530
Kabuki Syndrome
Scoliosis, Crossed fused renal ectopia, Duplicated collecting system, Lip pit, Hemivertebrae, Ora... ORPHA:2322
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Kyphosis, Ventriculomegaly, Respiratory insufficie... ORPHA:140
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hearing impairment, Hypertrophic cardiomyopathy, Failure to thrive, Kyphosis OMIM:618237
Opitz Gbbb Syndrome, Type Ii
Pulmonary arterial hypertension, High palate, Abnormality of the kidney, Depressed nasal bridge, ... OMIM:145410
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Kyphosis, Laryngomalacia, Failure to thrive, Kyphoscoliosis, High, narr... ORPHA:536516
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weakness, High palate OMIM:255200
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia OMIM:212065
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Downturned corners of mouth, Kyphosis, Urinary incontinence, Sensorineural hearing imp... ORPHA:464282
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Abnormal palate morphology, Kyphosis... ORPHA:3082
Dextrocardia
Meckel diverticulum, Abnormal renal morphology, Hydrocephalus, T-wave inversion, Abnormal pulmona... ORPHA:1666
Hurler-Scheie Syndrome
Scoliosis, Aortic regurgitation, Kyphosis, Thick vermilion border, Tracheal stenosis, Pulmonary a... OMIM:607015
Chromosome 17Q12 Deletion Syndrome
Scoliosis, Abnormality of upper lip, Hypoplasia of the bladder, Hyperechogenic kidneys, Renal hyp... OMIM:614527
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Abnormal palate morphology, Kyphosis, Spinal rigidity, Respiratory failure, Short neck ORPHA:75840
Stankiewicz-Isidor Syndrome
Sacral dimple, Low-set ears, Hearing impairment, Hypospadias, Ureteral duplication, Micropenis, P... OMIM:617516
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Scalp-Ear-Nipple Syndrome
Small earlobe, Abnormality of the antihelix, Delayed eruption of teeth, Pyelonephritis, Recurrent... ORPHA:2036
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus ORPHA:2736
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Platyspondyly, Abnormal respiratory system physiology, Laryngotracheomalacia, Kyphosis... ORPHA:94068
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Intestinal malrotation, Renal dysplasia, Ureteral atresia, Aortic valve stenosis... OMIM:208540
Pelger-Huet Anomaly
Recurrent otitis media, Kyphosis, Abnormality of the dentition, Median cleft palate, Failure to t... OMIM:169400
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Conductive hearing impairment, Ventriculomegaly, Choana... ORPHA:87
Hyperphosphatasia With Mental Retardation Syndrome 2
Broad nasal tip, Short nose, Anal stenosis, Ventriculomegaly, Aganglionic megacolon, Tented upper... OMIM:614749
Pelizaeus-Merzbacher Disease
Scoliosis, Kyphosis, Abnormality of the urinary system, Failure to thrive in infancy, Respiratory... ORPHA:702
Scedosporiosis
Abnormal renal morphology, Pleuritis, Pericarditis, Pulmonary fibrosis, Decreased pulmonary funct... ORPHA:449280
Orofaciodigital Syndrome Iii
Bulbous nose, Tongue nodules, Kyphosis, Low-set ears, Bifid tongue, Supernumerary tooth, Bifid uv... OMIM:258850
Hurler Syndrome
Aortic regurgitation, Biconcave vertebral bodies, C1-C2 subluxation, Kyphosis, Cardiomyopathy, Mi... OMIM:607014
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Wheezing, Anomalous origin of left pulmo... ORPHA:141127
Fanconi Anemia, Complementation Group L
Hydrocephalus, Renal hypoplasia, Esophageal atresia, Wide nasal bridge, Anal atresia, Cleft palat... OMIM:614083
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Dental malocclusion, Abnormality of the dentition, Kyphosis ORPHA:1858
X-Linked Intellectual Disability, Cabezas Type
Open bite, Scoliosis, Short philtrum, Short neck, Kyphosis, Wide mouth, Prominent nose, Cachexia,... ORPHA:85293
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Low-set, posteriorly rotated ears, Atresia of the external auditory ... ORPHA:1770
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Congenital pyloric atresia, Renal dyspla... ORPHA:158684
Pycnodysostosis
Hyperlordosis, Delayed eruption of teeth, Narrow palate, Abnormality of the vertebral column, Abn... ORPHA:763
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Scoliosis, Kyphosis, Ventriculomegaly, Abnormality of the cervical spine ORPHA:48431
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Weight loss, Cardiomyopathy, Depressed nasal bridge, Hyperlordosis, Long... ORPHA:354
Pfeiffer Syndrome Type 3
Horseshoe kidney, Respiratory distress, Short nose, Intestinal malrotation, Choanal atresia, Aque... ORPHA:93260
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis, Abnormal dental enamel morphology, Carious teeth, Abnormality of dental morphology... ORPHA:3253
Rett Syndrome
Scoliosis, Apnea, Kyphosis, Gastroesophageal reflux, Abnormality of the dentition, Abnormal T-wav... OMIM:312750
Granulomatosis With Polyangiitis
Abnormal oral cavity morphology, Hematuria, Pericarditis, Pleuritis, Cough, Weight loss, Respirat... ORPHA:900
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Abnormality of the middle ear ossicles, Dental crowding, Conductive hea... ORPHA:2789
Alagille Syndrome
Short philtrum, Abnormal form of the vertebral bodies, Long nose, Peripheral pulmonary artery ste... ORPHA:52
Multiple Myeloma
Elevated circulating creatinine concentration, Weight loss, Hypercalcemia, Hyperproteinemia ORPHA:29073
Gorham-Stout Disease
Abnormality of the internal auditory canal, Pleural effusion, Rhinorrhea, Hearing impairment, Abn... ORPHA:73
Peters Plus Syndrome
Spina bifida occulta, Renal hypoplasia/aplasia, Exaggerated cupid's bow, Ureteral duplication, Sh... ORPHA:709
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Schwartz-Jampel Syndrome
Pursed lips, Scoliosis, Narrow mouth, Overfolded helix, Odontogenic neoplasm, Death in infancy, R... ORPHA:800
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal lung lobation, Short philtrum, Low-set, posteriorly rotated ears, Kyphosis, A... ORPHA:958
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Abnormal dental enamel morphology, Carious teeth, Platyspondyly, Mucopo... ORPHA:582
Gm1-Gangliosidosis, Type I
Scoliosis, Beaking of vertebral bodies, Kyphosis, Abnormality of the urinary system, Death in inf... OMIM:230500
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, Choan... ORPHA:861
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Anterior beaking of lumbar vertebrae OMIM:230650
Haddad Syndrome
Central sleep apnea, Gastroesophageal reflux, Aganglionic megacolon, Death in infancy, Central hy... ORPHA:99803
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Dyspnea, Pulmonary infiltrates, Pulmonary fibrosis, Dysphagia, Gastroesophageal re... ORPHA:220393
Multiple Endocrine Neoplasia, Type Iib
Scoliosis, Hyperlordosis, Kyphosis, Aganglionic megacolon, Elevated urinary epinephrine, Failure ... OMIM:162300
Focal Dermal Hypoplasia
Enamel hypoplasia, Scoliosis, Oligodontia, Intestinal malrotation, Stenosis of the external audit... OMIM:305600
Hypomelanosis Of Ito
Irregularly spaced teeth, Scoliosis, Kyphosis, Thick lower lip vermilion OMIM:300337
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Supraventricular arrhythmia, Kyphosis, Back pain, Ventricular escape rh... ORPHA:98863
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration OMIM:258700
Sialidosis Type 2
Hearing impairment, Dyspnea, Nephropathy, Kyphosis ORPHA:87876
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Supraventricular arrhythmia, Kyphosis, Back pain, Ventricular escape rh... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Supraventricular arrhythmia, Kyphosis, Back pain, Ventricular escape rh... ORPHA:98853
Lateral Meningocele Syndrome
Scoliosis, Long philtrum, Abnormality of the middle ear ossicles, Dental crowding, Conductive hea... OMIM:130720
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Narrow palate, Broad nasal tip, Overfolded helix, Kyphosis, Hemivertebrae, Low-set ear... OMIM:618223
Alstrom Syndrome
Progressive sensorineural hearing impairment, Scoliosis, Renal insufficiency, Nephritis, Kyphosis... OMIM:203800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Peters-Plus Syndrome
Scoliosis, Thin vermilion border, Agenesis of maxillary lateral incisor, Hemivertebrae, Stenosis ... OMIM:261540
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Thin anteverted nares, Aplasia/Hypoplasia of the inne... ORPHA:2306
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Recurrent pneumonia, Short philtrum, Everted lower lip vermilion, Kyphosis, Tented upp... ORPHA:464738
Faciocardiorenal Syndrome
Horseshoe kidney, Narrow mouth, Underdeveloped nasal alae, Smooth philtrum, Hypodontia, Wide nasa... ORPHA:1973
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Absent brainstem auditory responses, Sensorineural hearing impairment, As... ORPHA:52368
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
16P13.2 Microdeletion Syndrome
Scoliosis, Sleep apnea, Overweight, Kyphosis, Ventriculomegaly, Gastroesophageal reflux, Hearing ... ORPHA:500055
Widow'S Peak Syndrome
Posteriorly rotated ears, Kyphosis, Low-set ears OMIM:314570
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Scoliosis, Short nose, Underdeveloped nasal alae, Dental crowding, Anteverted nares, Kyphosis, De... OMIM:619005
Spastic Paraplegia 46, Autosomal Recessive
Urinary incontinence, Scoliosis, Hearing impairment, Kyphosis OMIM:614409
Sialidosis Type 1
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Aminoaciduria, Wide nasal bridge, Sen... ORPHA:812
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Hearing impairment, Kyphosis ORPHA:99014
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Hematuria, Acute kidney injury, Cough, Cerebral hemorrhage, Pul... ORPHA:90068
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Sensorineural hearing impairment, Obesity ORPHA:3085
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Monosomy 9Q22.3
Long philtrum, Delayed eruption of teeth, Short neck, Narrow mouth, Odontogenic keratocysts of th... ORPHA:77301
X-Linked Dominant Chondrodysplasia Punctata
Kyphosis, Sensorineural hearing impairment, Abnormality of the dentition, Abnormal vertebral morp... ORPHA:35173
Micro Syndrome
Scoliosis, Short philtrum, Short nose, Macrotia, Low-set, posteriorly rotated ears, Kyphosis, Abn... ORPHA:2510
Autosomal Recessive Robinow Syndrome
Open bite, Scoliosis, Downturned corners of mouth, Death in infancy, Oral cleft, Exaggerated cupi... ORPHA:1507
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Aortic regurgitation, Kyphosis, Aortic valve stenosis, Short neck OMIM:252605
Silver-Russell Syndrome 1
Downturned corners of mouth, Urethral valve, Hepatocellular carcinoma, Abnormality of the ureter,... OMIM:180860
Ruvalcaba Syndrome
Scoliosis, Underdeveloped nasal alae, Dental crowding, Kyphosis, Narrow nose OMIM:180870
Ruvalcaba Syndrome
Scoliosis, Thin vermilion border, Hematuria, Narrow mouth, Abnormality of vertebral epiphysis mor... ORPHA:3121
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Elevated pulmonary artery pressure,... OMIM:619351
Zttk Syndrome
Scoliosis, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Hemivertebrae, High ... OMIM:617140
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Scoliosis, Carious teeth, Kyphosis, Cachexia ORPHA:2047
Hajdu-Cheney Syndrome
Open bite, Scoliosis, Thin vermilion border, Hypoplastic 5th lumbar vertebrae, Narrow mouth, Down... ORPHA:955
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Supraventricular arrhythmia, Kyphosis, Back pain, Ventricular escape rh... ORPHA:98855
Restrictive Dermopathy, Lethal
Narrow mouth, Stillbirth, Natal tooth, Choanal atresia, Abnormality of the pinna, Low-set ears, P... OMIM:275210
3M Syndrome
Scoliosis, Long philtrum, Abnormal dental enamel morphology, Delayed eruption of teeth, Hyperlord... ORPHA:2616
Desbuquois Dysplasia 1
Scoliosis, Long philtrum, Hyperlordosis, Platyspondyly, Narrow mouth, Short nose, Kyphosis, Smoot... OMIM:251450
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Kyphosis, Death in infancy... ORPHA:1393
Fountain Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Everted lower lip vermilion, Abnormal palate mo... ORPHA:3219
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Long philtrum, Apnea, Short nose, Dysphagia, Kyphosis, Ventriculomegaly, Smooth philtrum, Tented ... OMIM:617527
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Weismann-Netter Syndrome
Scoliosis, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth OMIM:112350
Thanatophoric Dysplasia Type 1
Platyspondyly, Hydrocephalus, Kyphosis, Ventriculomegaly, Respiratory insufficiency, Hearing impa... ORPHA:1860
Lopes-Maciel-Rodan Syndrome
Scoliosis, Dysphagia, Kyphosis OMIM:617435
Sjögren-Larsson Syndrome
Scoliosis, Abnormal dental enamel morphology, Kyphosis ORPHA:816
Shprintzen Omphalocele Syndrome
Scoliosis, Thin vermilion border, Abnormality of the mouth, Laryngeal hypoplasia, Anteroposterior... OMIM:182210
Toriello-Lacassie-Droste Syndrome
Short nose, Laryngeal hypoplasia, Abnormal penis morphology, Aganglionic megacolon, Abnormality o... ORPHA:3339
Plaa-Associated Neurodevelopmental Disorder
Long philtrum, Apnea, Short nose, Low-set, posteriorly rotated ears, Kyphosis, Ventriculomegaly, ... ORPHA:521426
Atypical Rett Syndrome
Scoliosis, Sudden episodic apnea, Kyphosis, Episodic tachypnea, Functional abnormality of the gas... ORPHA:3095
Dysostosis, Stanescu Type
Scoliosis, Hyperlordosis, Macroglossia, Carious teeth, Abnormal dental enamel morphology, Abnorma... ORPHA:1798
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Protruding ear OMIM:300861
Granulomatosis With Polyangiitis
Pleuritis, Oral ulcer, Cough, Chronic otitis media, Subglottic stenosis, Elevated bronchoalveolar... OMIM:608710
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Renal malrotation, Bifid ureter, Macrotia, Thick vermilion border, Renal dysplasia,... OMIM:617107
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Scoliosis, Bulbous nose, High, narrow palate, Short neck, Long philtrum, Macrotia, Ventriculomega... OMIM:300966
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Kyphosis, Respiratory insufficiency, Spinal rigidity, High palate, Shor... ORPHA:171436
Peutz-Jeghers Syndrome
Oral melanotic macule, Intestinal bleeding, Intussusception, Nasal polyposis, Bladder polyp, Labi... OMIM:175200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Scoliosis, Prominent nasal bridge, Aortic regurgitation, Kyphosis, Ventriculomegaly, Unilateral r... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Scoliosis, Prominent nasal bridge, Aortic regurgitation, Macrotia, Kyphosis, Ventriculomegaly, Un... ORPHA:464306
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Laryngotracheomalacia, Neonatal inspiratory str... ORPHA:93360
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Underdeveloped nasal alae, Conical tooth, Hypodontia, Wide nasal bridge, Hearing impairment, Sens... ORPHA:90024
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Gastrointestinal hemorrhage, Angina pectoris, Kyphosis, Cerebral hemorrhage, High pala... OMIM:177850
Osteogenesis Imperfecta, Type Ix
Scoliosis, Dentinogenesis imperfecta, Kyphosis, Platyspondyly OMIM:259440
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Short philtrum, Open mouth, Everted lower lip vermilion, Kyphosis, Wide nasal bridge, ... ORPHA:2479
Smith-Lemli-Opitz Syndrome
Scoliosis, Abnormal dental enamel morphology, Choanal atresia, Sensorineural hearing impairment, ... ORPHA:818
Cowden Syndrome 5
Scoliosis, Narrow mouth, Kyphosis, Furrowed tongue, Hearing impairment, Colonic diverticula, High... OMIM:615108
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Atelectasis, Failure to thrive, Respiratory insufficiency OMIM:618278