Gene: Anp32b MGI:1914878

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

acidic nuclear phosphoprotein 32 family member B

Synonyms:

PAL31, 2410015B15Rik, PHAPI2a

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Anp32b (0 diseases)
Human diseases predicted to be associated with Anp32b (717 diseases)

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	Matching phenotypes	Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Enterokinase Deficiency	Hypoproteinemia, Failure to thrive	OMIM:226200
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Volvulus, Recurrent urinary tract i...	ORPHA:2970
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	High-frequency hearing impairment, Recurrent bronchitis, Atelectasis, Otitis media	OMIM:300455
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren...	OMIM:616726
Deafness, Autosomal Dominant 85	Cochlear nerve hypoplasia, Sensorineural hearing impairment	OMIM:620227
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Sensorineural hearing impairment, Hydronephrosis,...	ORPHA:2838
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Stillbirth	OMIM:152800
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat...	ORPHA:86816
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:267700
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret...	OMIM:143400
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Abnormality of the vertebral column, Stillbirth, Abnormal lung morphology, Small ...	ORPHA:294975
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Hydroureter, Dental crowding, Cupped ear, Conductive hearing impairment, Stenosis o...	OMIM:616367
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Duodenal stenosis, Abnormality of the upper urinary tract, Hypoplasia of penis, Abno...	ORPHA:2547
Ménétrier Disease	Hypoalbuminemia, Stomach cancer, Multiple gastric polyps, Weight loss, Hypoproteinemia	ORPHA:2494
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter, Pulmonic stenosis, Sensorineural hearing impairment	OMIM:264140
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Low-set ears, Abnormality of the dentition, Nephrocalcinosis, Restrictive cardiomyopathy, Hydrour...	OMIM:615398
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch...	OMIM:616834
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate, Hydrocephalus, Death in infancy	OMIM:258320
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Refractory Celiac Disease	Hypoalbuminemia, Lymphoma, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoprote...	ORPHA:398063
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Codas Syndrome	Crumpled ear, Hydroureter, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abno...	ORPHA:1458
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Czeizel-Losonci Syndrome	Hypoplastic helices, Abnormality of the urinary system, Ureteral agenesis, Low-set, posteriorly r...	ORPHA:2437
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Marden-Walker Syndrome	Low-set ears, Multicystic kidney dysplasia, Narrow mouth, Renal hypoplasia/aplasia, Abnormality o...	ORPHA:2461
Raine Syndrome	Low-set ears, Natal tooth, Narrow mouth, Protruding tongue, Neonatal death, Short neck, High pala...	OMIM:259775
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total...	OMIM:603553
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia	OMIM:241600
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ...	ORPHA:2357
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Microphthalmia, Lenz Type	Abnormality of the dentition, Hydroureter, Delayed eruption of teeth, Hearing impairment, Low-set...	ORPHA:568
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Spastic Paraplegia 18B, Autosomal Recessive	High palate, Scoliosis, Kyphosis	OMIM:611225
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ...	ORPHA:26793
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Large fleshy ears, Narrow mouth, Urinary bladder wall hypertrophy, Short neck, Anal atresia, High...	ORPHA:280633
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Anal atresia, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Disseminated cutaneous warts, Weight loss, Hypopro...	ORPHA:90362
C1Q Deficiency 2	Atelectasis, Recurrent otitis media, Oral ulcer, Recurrent lower respiratory tract infections, Br...	OMIM:620321
Carpenter Syndrome 1	Low-set ears, Hydroureter, Conductive hearing impairment, Agenesis of permanent teeth, Obesity, P...	OMIM:201000
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter, Death in infancy	OMIM:618240
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Congenital shortened small intestine, Dilatation of the renal pelvis, Dilatation of...	OMIM:265380
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat...	ORPHA:70589
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Intestinal malrotation, Hydroureter, Fetal megacystis	OMIM:249210
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Vertebral segmentation def...	OMIM:618845
Diabetic Embryopathy	Hearing impairment, Low-set, posteriorly rotated ears, Abnormality of the pulmonary artery, Renal...	ORPHA:1926
Caudal Regression Syndrome	Pulmonary hypoplasia, Aplasia/Hypoplasia of the sacrum, Renal agenesis, Abnormality of the ureter...	ORPHA:3027
Cloacal Exstrophy	Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Intestinal malrotation, Vesic...	ORPHA:93929
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis, Sensorineural hearing impairment	ORPHA:2744
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Trisomy 1Q	Low-set ears, Abnormality of the outer ear, Multicystic kidney dysplasia, Ventriculomegaly, Narro...	ORPHA:261344
Sandhoff Disease	Hearing impairment, Failure to thrive, Congestive heart failure, Recurrent respiratory infections...	ORPHA:796
Koolen-De Vries Syndrome	Everted lower lip vermilion, Hypospadias, High, narrow palate, Renal duplication, Vertebral segme...	ORPHA:96169
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat...	OMIM:610978
Primary Ciliary Dyskinesia	Ventriculomegaly, Conductive hearing impairment, Hearing impairment, Atelectasis, Intestinal malr...	ORPHA:244
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea...	OMIM:614669
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter, Sensorineural hearing impairment	OMIM:598500
Fetal Akinesia Deformation Sequence 4	Low-set ears, Prenatal death, Neonatal death, Short neck, High palate, Posteriorly rotated ears, ...	OMIM:618393
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive	OMIM:607765
Weaver-Williams Syndrome	Protruding ear, Narrow mouth, Cleft palate	ORPHA:3448
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Low-set ears, Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Valvular pulmonary...	OMIM:300707
Pallister-Hall Syndrome	Renal hypoplasia, Microglossia, Hydroureter, Natal tooth, Anteriorly placed anus, Abnormal lung l...	OMIM:146510
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Lower Limb Malformation-Hypospadias Syndrome	Macrotia, Low-set, posteriorly rotated ears, Abnormality of the ureter, Short neck, Hypospadias, ...	ORPHA:2487
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Hardikar Syndrome	Cleft soft palate, Bilateral cleft palate, Thoracolumbar scoliosis, Celiac disease, Esophageal va...	OMIM:301068
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Glandular hypospadias, Penile hypospadias, Death in infancy, Neonatal death, Micrope...	OMIM:300219
Prune Belly Syndrome	Xerostomia, Hydroureter, Hydronephrosis, Anal atresia, Congenital posterior urethral valve	OMIM:100100
Frontometaphyseal Dysplasia 1	Hydroureter, Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Hearing im...	OMIM:305620
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Thoracolumbar scoliosis, ...	OMIM:620450
Familial Visceral Myopathy	Hydroureter, Megacystis, Low-set, posteriorly rotated ears, Vesicoureteral reflux, Aganglionic me...	ORPHA:2604
Auriculocondylar Syndrome 4	Hearing impairment, Question mark ear, Narrow mouth, Glossoptosis, Cleft palate	OMIM:620457
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Gastroesophageal reflux, Hydroureter, Downturned corners of mouth, Long philtrum, Hearing impairm...	OMIM:610759
Chromosome 15Q14 Deletion Syndrome	Low-set ears, Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infe...	OMIM:616898
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Low-set ears, Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Prominent crus of...	OMIM:619194
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis	OMIM:619362
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Hydroureter, Failure to thrive, De...	ORPHA:289
Dengue Fever	Hypoproteinemia	ORPHA:99828
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Meconium Aspiration Syndrome	Transient pulmonary infiltrates, Aspiration pneumonia, Atelectasis, Pulmonary arterial hypertensi...	ORPHA:70588
Wolfram Syndrome 1	Hydroureter, Hearing impairment, Cardiomyopathy, Sensorineural hearing impairment, Hydronephrosis...	OMIM:222300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Johanson-Blizzard Syndrome	Hypoproteinemia, Failure to thrive	ORPHA:2315
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis...	ORPHA:60032
Potocki-Lupski Syndrome	Hypocholesterolemia, Small for gestational age, Failure to thrive	OMIM:610883
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Low-set ears, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of t...	ORPHA:369837
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Fanconi Anemia	Hearing impairment, Aplasia/Hypoplasia of the uvula, Renal hypoplasia/aplasia, Weight loss, Anal ...	ORPHA:84
X-Linked Intellectual Disability, Stocco Dos Santos Type	Recurrent respiratory infections, Small for gestational age, Kyphosis	ORPHA:85288
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Death ...	ORPHA:2241
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Hydroureter, Failure to thrive, Functional abnormality of the bladder, Renal i...	ORPHA:223
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra...	OMIM:615558
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Pleural effusion, Parenchymal consolidation, Abnormality of the gastrointestinal tra...	ORPHA:2902
Caudal Duplication	Abnormal penis morphology, Intestinal duplication, Bifid sacrum, Renal hypoplasia/aplasia, Verteb...	ORPHA:1756
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th...	OMIM:266510
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension, Hydronephrosis	OMIM:619431
Omenn Syndrome	Hypoproteinemia, Failure to thrive	OMIM:603554
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Abnormal helix morphology, Short neck, Hepatoblastoma, Hypospadias,...	ORPHA:373
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter, Abnormal palate morphology, Round ear	ORPHA:1450
Autosomal Recessive Spastic Paraplegia Type 53	Ventriculomegaly, Failure to thrive, Hearing impairment, Abnormal auditory canal morphology, Kyph...	ORPHA:319199
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Low-set ears, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Short neck, Stillb...	OMIM:236500
Branchiootorenal Syndrome 1	Dilatated internal auditory canal, Sensorineural hearing impairment, Enlarged vestibular aqueduct...	OMIM:113650
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Re...	ORPHA:2973
Oeis Complex	Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, Duplicated colo...	OMIM:258040
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Conductive hearing impairment,...	ORPHA:199306
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Xerostomia, Ureterocele, Hearing impairment, Absence of Stensen duct, Duplicated c...	OMIM:604292
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Failure to thrive, Long philtrum, Transient ischemic attack, Wide mouth, Hydronephro...	ORPHA:2995
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Failure to thrive, Elevated circulating creatine kinase concentration	OMIM:615895
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Large fleshy ears, Open mouth, Anal atresia, High palate, Renal dysplasia, Gastroes...	OMIM:614080
Noonan Syndrome 9	Short neck, Hydroureter, Pulmonic stenosis	OMIM:616559
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Mitochondrial Complex I Deficiency, Nuclear Type 15	Hearing impairment, Failure to thrive, Hypertrophic cardiomyopathy, Neonatal death, Kyphosis	OMIM:618237
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Decreased body weight, Posteriorly rotated ears, Small for gestational age, Macrotia	OMIM:618392
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Dysphagia, Pulmonary fibrosis, Right bundle branch block	ORPHA:254361
Bresek Syndrome	Low-set ears, Renal hypoplasia, Hypoplasia of the bladder, Hearing impairment, Vesicoureteral ref...	ORPHA:85284
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Failure to thrive, Atelectasis, Abnormal pulmonary interstitial morpholo...	OMIM:620233
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T...	ORPHA:70587
Emanuel Syndrome	Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Delayed eruption...	OMIM:609029
Acromesomelic Dysplasia, Maroteaux Type	Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo...	ORPHA:40
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Gastroesophageal reflux, Abnormal form of the vertebral bodies...	ORPHA:1834
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Low-set, posteriorly rotat...	ORPHA:2635
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Anodontia, Oligodontia, Everted lower lip vermilion, Scoliosis, Kyphosis	ORPHA:276630
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Ciliary Dyskinesia, Primary, 1	Pneumonia, Chronic otitis media, Conductive hearing impairment, Atelectasis, Recurrent bronchitis...	OMIM:244400
Squalene Synthase Deficiency	Failure to thrive in infancy, Hypocholesterolemia, Decreased LDL cholesterol concentration, Eleva...	OMIM:618156
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, ...	ORPHA:1548
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
White-Kernohan Syndrome	Low-set ears, Gastroesophageal reflux, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Rec...	OMIM:619426
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Hearing impairment, Atelectasis	ORPHA:896
Chand Syndrome	Hydroureter, Atelectasis, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid t...	ORPHA:1401
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Ureterocele, Absence of Stensen duct, Duplicated collecting system, An...	OMIM:129900
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ...	ORPHA:49
Short-Rib Thoracic Dysplasia 12	Low-set ears, Renal hypoplasia, Pulmonary hypoplasia, Natal tooth, Atelectasis, Hamartoma of tong...	OMIM:269860
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Dental crowding, Cupped ear, Cleft...	OMIM:602483
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Delayed eruption of teeth, Atelectasis, Gingivitis, Recurrent respi...	ORPHA:2314
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Mcdonough Syndrome	Dental malocclusion, Open bite, Low-set, posteriorly rotated ears, Abnormal palate morphology, Pr...	ORPHA:2471
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Kyphosis, Subdural hemorrha...	ORPHA:90324
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Open mouth, Hematuria, Everted lower lip vermilion, Prox...	ORPHA:534
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Low-set ears, Atlantoaxial dislocation, Carious teeth, Beaking of vertebral bodies, Anterior atla...	ORPHA:536467
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Bladder exstrop...	OMIM:600057
Coffin-Siris Syndrome 1	Low-set ears, Hearing impairment, High palate, Duodenal ulcer, Hypospadias, Gastric ulcer, Ectopi...	OMIM:135900
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Truncal obesity, Short philtru...	ORPHA:2429
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Failure to thrive	OMIM:608776
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
Ck Syndrome	Dental crowding, Slender build, Posteriorly rotated ears, Hyperlordosis, High palate, Scoliosis, ...	OMIM:300831
Aase-Smith Syndrome I	Open mouth, Death in infancy, Hydrocephalus, Dandy-Walker malformation, Abnormal pinna morphology...	OMIM:147800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis, Hearing impairment	OMIM:617087
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Bor Syndrome	Multicystic kidney dysplasia, Hearing impairment, Atresia of the external auditory canal, Stenosi...	ORPHA:107
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Noonan Syndrome 4	Low-set ears, Dental malocclusion, Hypertrophic cardiomyopathy, Large for gestational age, Wide m...	OMIM:610733
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol...	OMIM:271530
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Micropenis, Scoliosi...	OMIM:301900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Gastroesophageal reflux, Cardiomyopathy, Atelectasis, Reduced left ventricular ejection fraction,...	ORPHA:258
Congenital Arthrogryposis With Anterior Horn Cell Disease	Low-set ears, Neonatal death, Short neck, High palate, Scoliosis, Kyphosis	OMIM:611890
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia, Kyphosis	OMIM:618453
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Protruding ear, Short philtrum, Scoliosis, Kyphosis, Cleft palate	ORPHA:85317
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Short man...	OMIM:141400
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Obesity, Sensorineural hearing impairment, Scoliosis, Kyphosis	OMIM:616756
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Thick lower lip vermilion, Hypoplasia of the primary teeth, Ena...	OMIM:234250
Alpha-Mannosidosis	Abnormal helix morphology, Chronic otitis media, Dental malocclusion, Hearing impairment, Recurre...	ORPHA:61
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Low-set ears, Intestinal malrotation, Orofacial cleft, Deep philtrum, Abnormal pinna morphology, ...	ORPHA:77300
3C Syndrome	Aortic valve stenosis, Low-set ears, Short neck, Anal atresia, Hypospadias, High, narrow palate, ...	ORPHA:7
Intellectual Developmental Disorder, Autosomal Dominant 23	Low-set ears, Dental crowding, Downturned corners of mouth, Long philtrum, Thin upper lip vermili...	OMIM:615761
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Narrow mouth, Kyphosis, Failure to thrive	OMIM:620007
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Kyphosis, Hyperlordosis	OMIM:303350
Usher Syndrome Type 1	Abnormal dental enamel morphology, Vestibular hypofunction, Abnormal cochlea morphology, Sensorin...	ORPHA:231169
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
15Q24 Microdeletion Syndrome	Hypospadias, Abnormality of the dentition, Abnormality of the outer ear, Kyphosis, Failure to thr...	ORPHA:94065
Myasthenic Syndrome, Congenital, 25, Presynaptic	Dysphagia, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Failure to thrive	ORPHA:71
Osteomesopyknosis	Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis	ORPHA:2777
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au...	ORPHA:2549
Vici Syndrome	Cardiomyopathy, Recurrent respiratory infections, Renal tubular acidosis, Death in infancy, Urete...	ORPHA:1493
Fryns Syndrome	Low-set ears, Abnormal helix morphology, Short neck, Anal atresia, Hypospadias, Duodenal atresia,...	OMIM:229850
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Ventriculomegaly, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Hydr...	OMIM:619797
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Abnormality of t...	ORPHA:2869
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Narrow mouth, Proteinuria...	ORPHA:261222
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Narrow palate, Ventriculomegaly, Dilated cardiomyopathy, Renal insufficiency, Overf...	OMIM:608836
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Dilated third ventricle, Lateral ventricle dilatation, Atelectasis, Tricuspid regu...	OMIM:620371
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Ventriculomegaly, Hydroureter, Failure to thrive, Ureteral stenosis, Hydronephrosis...	OMIM:269150
22Q11.2 Deletion Syndrome	Low-set ears, Carious teeth, Hearing impairment, Narrow mouth, Short neck, Anal atresia, Hypospad...	ORPHA:567
Chromosome 3Q13.31 Deletion Syndrome	Low-set ears, Ventriculomegaly, Short philtrum, Micropenis, High palate, Kyphosis, Macrotia	OMIM:615433
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Heart Defects-Limb Shortening Syndrome	Abnormality of the pulmonary artery, Kyphosis, Abnormal form of the vertebral bodies, Death in in...	ORPHA:1354
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Neonatal death	OMIM:618810
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Low-set ears, Intestinal malrotation, Renal duplication, Ureteral duplication, Anal atresia, Rect...	OMIM:270420
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Renal agenesis, Lateral ventricle dilatation, Horseshoe kidney, Hydrocephalus, ...	OMIM:602200
Klippel-Feil Syndrome 2, Autosomal Recessive	Conductive hearing impairment, Cleft upper lip, Sensorineural hearing impairment, Cervical C2/C3 ...	OMIM:214300
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Hydronephrosis, Aganglionic megacolon, Anal atresia, Rectovag...	OMIM:236700
Zimmermann-Laband Syndrome 3	Bifid uvula, Thick lower lip vermilion, Gingival overgrowth, High palate, Kyphosis	OMIM:618658
Intellectual Developmental Disorder, Autosomal Dominant 26	Low-set ears, Kyphosis, Wide mouth, Narrow mouth, Deep philtrum, Thick vermilion border, Short ph...	OMIM:615834
Winchester Syndrome	Gingival overgrowth, Kyphosis	OMIM:277950
Trisomy 13	High, narrow palate, Abnormality of the dentition, Low-set ears, Abnormal helix morphology, Long ...	ORPHA:3378
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Gastroesophageal reflux, Scoliosis, Kyphosis	OMIM:300434
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami, ...	OMIM:141300
Zygomycosis	Ileitis, Pulmonary infiltrates, Acute infectious pneumonia, Air crescent sign, Gastrointestinal h...	ORPHA:73263
Microphthalmia, Syndromic 1	Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis media, Renal hypoplasia/apl...	OMIM:309800
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmona...	ORPHA:538
Cdkl5-Deficiency Disorder	Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis, Kyphosis	ORPHA:505652
Juvenile Polyposis Syndrome	Failure to thrive, Hypoproteinemia, Stomach cancer, Neoplasm of the gastrointestinal tract, Neopl...	ORPHA:2929
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White s...	OMIM:618234
Microcephalic Primordial Dwarfism, Montreal Type	Carious teeth, Open bite, Low-set, posteriorly rotated ears, Congenital pyloric atresia, Abnormal...	ORPHA:2617
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Ventriculomegaly, Failure to thrive, Tricuspid regurgitation, Vesicoureteral re...	OMIM:618460
Chédiak-Higashi Syndrome	Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:167
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Kyphosis	OMIM:609384
Alg1-Cdg	Protein-losing enteropathy, Cardiomyopathy, Renal insufficiency, Abnormality of the gastrointesti...	ORPHA:79327
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Bifid uvula, Abnormality of the urinary system, Hydroureter, Abnormal form of the v...	ORPHA:2636
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231183
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Acute kidney injury, Functional abnormality of the bl...	ORPHA:96148
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove...	ORPHA:50815
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hypospadias, Ventriculomegaly, Low-set ears, Conductive hearing impairment,...	ORPHA:254346
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Scoliosis, Kyphosis, Long philtrum	ORPHA:2598
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, De...	ORPHA:96180
Crisponi Syndrome	Long philtrum, Narrow mouth, Death in infancy, High palate, Sudden cardiac death, Scoliosis, Kyph...	ORPHA:1545
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Cupped ear, Horseshoe ki...	ORPHA:314588
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Gastroesophageal reflux, Recu...	OMIM:613177
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip	OMIM:137215
Kleefstra Syndrome 2	Bifid uvula, Scoliosis, Kyphosis, Everted lower lip vermilion	OMIM:617768
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, High, narrow palate, Hydrocephalus, Scoliosis, Kyphosis	ORPHA:2181
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Failure to thrive, Oligosacchariduria, Atelectasis, Hypertrophic cardio...	ORPHA:365
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Recurrent pneumonia, Gastroesophageal reflux, Ventriculomegaly, Furrowed tongue, Te...	OMIM:616449
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Narrow mouth, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lung...	ORPHA:1046
Gaisböck Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,...	ORPHA:90041
Marden-Walker Syndrome	High, narrow palate, Low-set ears, Renal hypoplasia, Pulmonary hypoplasia, Long philtrum, Narrow ...	OMIM:248700
Deafness, X-Linked 5, With Peripheral Neuropathy	Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,...	OMIM:300614
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Isotretinoin Embryopathy-Like Syndrome	Anotia, Hydrocephalus, Cleft palate, Microtia	OMIM:243440
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Hydroureter, Abnormality of the vertebral column, F...	ORPHA:2273
Fraser Syndrome 2	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenes...	OMIM:617666
Smith-Magenis Syndrome	Ventriculomegaly, Gastroesophageal reflux, Conductive hearing impairment, Abnormal form of the ve...	ORPHA:819
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Low-set ears, Short neck, High palate, Scoliosis, Kyphosis	ORPHA:178148
Bardet-Biedl Syndrome 12	Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia	OMIM:615989
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormal form of the vertebral bodies, Abnormal dental enamel...	ORPHA:2916
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Widely-spaced maxillary central incisors, Thick lower lip vermi...	OMIM:300602
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis, Hearing impairment	ORPHA:101075
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Hearing impairment, Urolithiasis, Renal insufficiency, Death in childhood, Wide mou...	OMIM:300661
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Koolen-De Vries Syndrome	Open mouth, Everted lower lip vermilion, High palate, Macrotia, Small for gestational age, Cleft ...	OMIM:610443
Beckwith-Wiedemann Syndrome	Nephropathy, Hearing impairment, Abnormal earlobe morphology, Hepatoblastoma, Hypertrophic cardio...	ORPHA:116
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Abnormal form of the vertebral bodies, Long philtrum, Low-set, posteriorly rotated e...	ORPHA:2311
Baralle-Macken Syndrome	Urinary incontinence, Obesity, Kyphosis, High, narrow palate	OMIM:619255
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Low-set ears, Abnormality of the ureter, Abnormal dental morphology, Short neck, Hyperlordosis, H...	ORPHA:2522
4Q21 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Ventriculomegaly, Downturned corners of mouth, Hearin...	ORPHA:238750
Wieacker-Wolff Syndrome, Female-Restricted	Low-set ears, Ventriculomegaly, Downturned corners of mouth, Long philtrum, Short neck, Posterior...	OMIM:301041
Zimmermann-Laband Syndrome 2	Gingival overgrowth, Sensorineural hearing impairment, Short neck, Deep philtrum, Thick vermilion...	OMIM:616455
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Fraser Syndrome 3	Low-set ears, Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung lobation, Ureter...	OMIM:617667
Mucopolysaccharidosis, Type Iva	Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid process, ...	OMIM:253000
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Ventriculomegaly, Thick lower lip vermilion, Wide mouth, Abnormal pinna morphology, Abdominal obe...	OMIM:300354
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti...	ORPHA:51636
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Crossed fused renal ectopia, Cleft soft pal...	ORPHA:2919
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Abnormality of the ureter, Obesity, Short neck, Abnormality o...	ORPHA:3409
Trisomy 20P	Abnormality of the ureter, Abnormal antihelix morphology, Short neck, Everted lower lip vermilion...	ORPHA:261318
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Sensorineural hearing impairment, Orofacial cleft, Achalasia, Macroglos...	ORPHA:79107
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Fryns Syndrome	Multicystic kidney dysplasia, Short neck, Anal atresia, High palate, Hypospadias, Non-midline cle...	ORPHA:2059
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	High, narrow palate, Obesity, Scoliosis, Kyphosis	OMIM:618124
Diphallia	Penoscrotal transposition, Gastrointestinal duplication, Bladder exstrophy, Duplicated colon, Hor...	ORPHA:227
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Liver Disease, Severe Congenital	Failure to thrive, Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia...	OMIM:619991
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin...	ORPHA:14
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Kyphosis, Narrow mouth, Short philtrum, Scoliosis, Small for gestational age	ORPHA:352490
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Urethritis, Hematuria, Weight loss, Tubulointerstitial nephrit...	ORPHA:449395
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Atelectasis, Shock, Renal insufficiency, Dysphagia, Bradycardia, Myocardit...	ORPHA:319213
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Dilated cardiomyopathy, Decreased mitochondrial number, Nephrolithiasis, Arrhyth...	ORPHA:352447
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Thanatophoric Dysplasia	Platyspondyly, Low-set ears, Ventriculomegaly, Hearing impairment, Abnormal sacroiliac joint morp...	ORPHA:2655
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Hearing impairment, Low-se...	ORPHA:628
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis, Hearing impairment	ORPHA:101078
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Slender build, Thick vermilion border, Open m...	ORPHA:364028
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Low-set ears, Short neck, High palate, Renal dysplasia, Accessory oral frenulum, Acute kidney inj...	OMIM:266920
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Slender build, High palate, Scoliosis, Kyphosis	OMIM:300676
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Pulmonary hypoplasia, Intestinal malrotation, Stage 5 chronic kidney disea...	OMIM:208540
Harrod Syndrome	Multicystic kidney dysplasia, Dental malocclusion, Failure to thrive, Narrow mouth, Protruding ea...	ORPHA:2115
Aredyld Syndrome	Abnormal dental enamel morphology, Abnormality of the ureter, Low-set, posteriorly rotated ears, ...	ORPHA:1133
Stankiewicz-Isidor Syndrome	Low-set ears, Hearing impairment, Micropenis, Ureteral duplication, Hypospadias, Sacral dimple	OMIM:617516
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Low-set, posteriorly rotated ears, Abnormality of the ureter, Ob...	ORPHA:1035
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Wide mouth, Gingival overgrowth, Protruding ear, Beaking of vertebral ...	ORPHA:137834
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Pulmonary cyst, Large for gestational age, Nephroblastoma, Kyphosis, Sacral dimple, Enlarged kidney	OMIM:618272
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Low-set ears, Hearing impairment, Decreased numbers of nephrons, Ectopic kidney, Abnormal pinna m...	OMIM:617641
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re...	ORPHA:79403
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Low-set ears, Ureteral triplication, Hydronephrosis, Hydrocephalus, Hemivertebrae, High palate, S...	OMIM:104350
Amyloidosis, Finnish Type	Cardiomyopathy, Stage 5 chronic kidney disease, Renal insufficiency, Decreased heart rate variabi...	OMIM:105120
Difference Of Sex Development-Intellectual Disability Syndrome	Downturned corners of mouth, Low-set, posteriorly rotated ears, Short philtrum, Short neck, Thin ...	ORPHA:2983
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Bifid uvula, Downturned corners of mouth, Long philtrum, Intestinal malrotation, Ab...	ORPHA:404440
Dextrocardia	Meckel diverticulum, Abnormal EKG, Intestinal malrotation, Abnormality of the ureter, Abnormal lu...	ORPHA:1666
Branchiootic Syndrome	Abnormality of the outer ear, Lip pit, Hearing impairment, Conductive hearing impairment, Atresia...	ORPHA:52429
Genitopalatocardiac Syndrome	Low-set ears, Multicystic kidney dysplasia, Downturned corners of mouth, Non-midline cleft of the...	ORPHA:2075
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Schaaf-Yang Syndrome	Low-set ears, Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Open mouth, Abnorma...	OMIM:615547
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Hydroureter, Urethral diverticulum, Tricuspid regurgitation, Mitral ...	OMIM:212093
Kabuki Syndrome	Renal hypoplasia/aplasia, Sensorineural hearing impairment, Vertebral clefting, Duplicated collec...	ORPHA:2322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Ventriculomegaly, Hyperlordosis, Vertebral fusion, Scoliosis, Dysphagia, Kyphosis	OMIM:606612
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Weight loss, Hypercalcemia	ORPHA:29073
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Dilated cardiomyopathy, Chronic otitis media, Hearing impairment, Long philtrum...	ORPHA:261250
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Meckel Syndrome 12	Low-set ears, Bifid uvula, Renal hypoplasia, Bilateral renal agenesis, Ureteral hypoplasia	OMIM:616258
7Q31 Microdeletion Syndrome	Enuresis nocturna, Galactosuria, Low-set ears, Gastroesophageal reflux, Long philtrum, Childhood ...	ORPHA:251061
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,...	ORPHA:798
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Low-set ears, Abnormality of the dentition, Long philtrum, Smooth philtrum, Short philtrum, Scoli...	ORPHA:261190
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Obesity, Microdontia, Arrhythmia, Short neck, Scoliosis, Kyphosis	ORPHA:3191
Crouzon Syndrome	Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal, Hydrocephalus,...	ORPHA:207
Orofaciodigital Syndrome V	Low-set ears, Bifid uvula, Hearing impairment, Recurrent respiratory infections, Horseshoe kidney...	OMIM:174300
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Downturned corners of mouth, Obesity, Sensorineural hearing impairment, Urinary incontinence, Sco...	ORPHA:464282
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Intestinal pseudo-obstruction, Delayed eruption of teeth, Congestive heart f...	OMIM:309900
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Urinary glycosami...	OMIM:253220
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Failure to thrive, Hearing impairment, Thick lower ...	ORPHA:583
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Ventriculomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis	OMIM:230650
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Obesity, Hydronephrosis, ...	OMIM:620511
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Protruding ear, Recurrent lower respiratory tract infections, H...	OMIM:254090
Rhizomelic Syndrome, Urbach Type	Abnormal form of the vertebral bodies, Short neck, High palate, Cleft palate, Kyphosis, Pulmonic ...	ORPHA:3098
Uruguay Faciocardiomusculoskeletal Syndrome	Low-set ears, Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Kyphoscoliosis, ...	OMIM:300280
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Steatorrhea	OMIM:212065
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Low-set ears, Gastroesophageal reflux, Long philtrum, Macrodontia, Obesity, Narrow mouth, Thin up...	OMIM:618443
Farber Disease	Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, Nodular pattern on ...	ORPHA:333
Digeorge Syndrome	High, narrow palate, Unilateral renal agenesis, Bifid uvula, Gastroesophageal reflux, Recurrent p...	OMIM:188400
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Low-set, posteriorly rotated ears, Butt...	ORPHA:958
Thanatophoric Dysplasia Type 2	Platyspondyly, Ventriculomegaly, Hearing impairment, Aplasia/Hypoplasia of the lungs, Abnormality...	ORPHA:93274
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the dentition, Carious teeth, Cleft upper lip, Abnormal dental enamel morphology, ...	ORPHA:3253
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Low-set ears, Multicystic kidney dysplasia, Ventriculomegaly, Failure to th...	ORPHA:261349
Relapsing Polychondritis	Anteriorly placed anus, Atelectasis, Vertigo, Large vessel vasculitis, Recurrent aphthous stomati...	ORPHA:728
Stickler Syndrome, Type I	Platyspondyly, Bifid uvula, Conductive hearing impairment, Spondylolisthesis, Submucous cleft har...	OMIM:108300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Dilated cardiomyopathy, Exercise-induced myoglobinuria, Hyperlordosis, Vertebral fu...	OMIM:607155
Mucopolysaccharidosis, Type Ivb	Aortic valve stenosis, Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of...	OMIM:253010
Alg9-Cdg	Low-set ears, Bifid uvula, Hypoplasia of the bladder, Gastroesophageal reflux, Long philtrum, Abn...	ORPHA:79328
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Lymphoma, Reduced circulating transferrin concentr...	ORPHA:90363
Trisomy 9P	Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Macrotia, Impac...	ORPHA:236
Tetraamelia Syndrome 2	Low-set ears, Ankyloglossia, Bilateral lung agenesis, Bilateral cleft lip, Hypoplastic pulmonary ...	OMIM:618021
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Dental malocclusion, Scoliosis, Kyphosis	ORPHA:1858
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Duplication of renal pelvis, Delayed eruption of teeth, Recurrent u...	ORPHA:2036
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Unilateral renal agenesis, Everted upper lip vermilion, Hearing impairment, Vesicou...	OMIM:619951
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner...	ORPHA:705
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Lateral Meningocele Syndrome	Low-set ears, Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impairm...	OMIM:130720
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Ventriculomegaly, Carious teeth, Ureterocele, Narrow mouth, Microdontia, Thin upper...	OMIM:616734
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Lateral Meningocele Syndrome	High, narrow palate, Low-set ears, Dental crowding, Abnormal form of the vertebral bodies, Atresi...	ORPHA:2789
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Failure to thrive, Downturned corners of mouth, Intestinal malrot...	OMIM:617602
Shashi-Pena Syndrome	Low-set ears, Unilateral renal agenesis, Ventriculomegaly, Cupped ear, Cervical C2/C3 vertebral f...	OMIM:617190
Ullrich Congenital Muscular Dystrophy	Abnormal palate morphology, Short neck, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:75840
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of the cervical spine, Ventriculomegaly, Scoliosis, Kyphosis	ORPHA:48431
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate	ORPHA:2736
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Cleft lip, Dental malocclusion, Downturned corners of mouth, Anteriorly placed anus...	OMIM:616894
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Absent internal auditory canal, Narrow palate, Hypoplasia of the cochlea, Profound sensorineural ...	OMIM:620469
Silver-Russell Syndrome 1	Downturned corners of mouth, Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadi...	OMIM:180860
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Failure to thrive, Kyphoscoliosis, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:536516
Gm1 Gangliosidosis	Platyspondyly, Low-set ears, Gastroesophageal reflux, Abnormal form of the vertebral bodies, Card...	ORPHA:354
Peters Plus Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Short neck, Anal atresia, Hypospadias, Lo...	ORPHA:709
Wieacker-Wolff Syndrome	Low-set ears, Broad alveolar ridges, Long philtrum, Smooth philtrum, Short neck, Hyperlordosis, U...	OMIM:314580
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Ventriculomegaly, Subdural hemorrhage, Lateral ventricle dilatation, Abnormal pinna morphology, S...	OMIM:618291
Marshall-Smith Syndrome	Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ...	OMIM:602535
Congenital Myopathy 22A, Classic	Dental crowding, Tricuspid regurgitation, Open mouth, Thoracic scoliosis, Neonatal death, Bradyca...	OMIM:620351
Pelger-Huet Anomaly	Abnormality of the dentition, Failure to thrive, Recurrent otitis media, Gingival overgrowth, Med...	OMIM:169400
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Abnormal antihelix morphology,...	ORPHA:3082
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Low-set ears, Dilated third ventricle, Lateral ventricle dilatation, Long philtrum, Tented upper ...	OMIM:619244
Hypomelanosis Of Ito	Irregularly spaced teeth, Scoliosis, Kyphosis, Thick lower lip vermilion	OMIM:300337
Deafness, Autosomal Dominant 9	Vertigo, Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration	OMIM:601369
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Atresia of the external auditory canal, Low-set, posteriorly rotated ears, Abnormality of the ure...	ORPHA:1770
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Microtia, first degree, Widely spaced teeth, Peg-shaped maxillary lateral incisors...	OMIM:610706
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia	ORPHA:158048
Alagille Syndrome	Nephrotic syndrome, Peripheral pulmonary artery stenosis, Abnormal form of the vertebral bodies, ...	ORPHA:52
Alg12-Cdg	Hyponatremia, Hypocholesterolemia, Failure to thrive, Hypoalbuminemia	ORPHA:79324
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Hearing impairment, Failure to thrive in infancy, Cachexia, Re...	ORPHA:702
Coffin-Lowry Syndrome	Narrow palate, Ventriculomegaly, Abnormal form of the vertebral bodies, Delayed eruption of teeth...	ORPHA:192
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Neonatal deat...	OMIM:600501
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:618484
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Esophageal Atresia	Abnormal vertebral morphology, Hearing impairment, Esophagitis, Abnormal gastrointestinal tract m...	ORPHA:1199
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusi...	OMIM:615067
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Bifid uvula, Hypoplasia of the odontoid process, Atlantoaxial instability, Hearing...	OMIM:183900
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Aspiration pneumonia, ...	ORPHA:52368
Myopathy, Centronuclear, 2	Kyphosis, High palate, Scoliosis, Hyperlordosis	OMIM:255200
Hurler Syndrome	Aortic regurgitation, Hypoplasia of the odontoid process, Hearing impairment, Cardiomyopathy, Rec...	OMIM:607014
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Abnormality of the urinary system, Congestive heart failure, Hypertrophic...	OMIM:230500
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Low-set ears, Recurrent pneumonia, Dilated third ventricle, Lateral ventricl...	ORPHA:464738
Woolly Hair Nevus	Enlarged vestibular aqueduct, Widely-spaced incisors	ORPHA:79414
Baller-Gerold Syndrome	Conductive hearing impairment, Anteriorly placed anus, Failure to thrive in infancy, Abnormality ...	ORPHA:1225
Foxg1 Syndrome Due To 14Q12 Microdeletion	Gastroesophageal reflux, Tented upper lip vermilion, Abnormal antihelix morphology, Protruding ea...	ORPHA:261144
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
X-Linked Intellectual Disability, Cabezas Type	Abnormal earlobe morphology, Thick lower lip vermilion, Open bite, Obesity, Wide mouth, Short phi...	ORPHA:85293
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux...	OMIM:301111
Cat Eye Syndrome	Low-set ears, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticulum, Renal ...	OMIM:115470
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormality of the dentition, Carious teeth, Hearing impairment, Spinal canal sten...	ORPHA:582
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Peripheral pulmonary artery stenosis, Ventriculomegaly, Hearing impairment, Vesico...	OMIM:614749
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Hearing impairment, Open bite, Ankyloglossia, Short neck, Chronic o...	ORPHA:1507
Saethre-Chotzen Syndrome	Low-set ears, Conductive hearing impairment, Abnormal form of the vertebral bodies, Hearing impai...	ORPHA:794
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventriculomegaly, Failure to thrive, Atelectasis, Death in childhood, Recurrent respiratory infec...	OMIM:618278
Flynn-Aird Syndrome	Carious teeth, Progressive sensorineural hearing impairment, Cachexia, Scoliosis, Kyphosis	ORPHA:2047
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Gastroesophageal reflux, Hearing impairment, Congestive heart failure, Recurrent o...	OMIM:616482
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis, Hearing impairment	OMIM:610743
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Protruding ear, Scoliosis, Kyphosis	OMIM:300861
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Scoliosis, Kyphosis, Hearing impairment	OMIM:614409
Isotretinoin-Like Syndrome	Abnormality of the pulmonary veins, Atresia of the external auditory canal, Anotia, Aplasia/Hypop...	ORPHA:2306
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis, Hearing impairment	ORPHA:99014
Peters-Plus Syndrome	Low-set ears, Hearing impairment, Short lingual frenulum, Decreased body weight, Short neck, Hypo...	OMIM:261540
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Long philtrum, Oligodontia, Thin upper lip vermilion, Short philtrum, Thick verm...	OMIM:617061
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity, Kyphosis, Hyperlordosis, Sensorineural hearing impairment	ORPHA:3085
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Narrow mouth, Decreased body weight, Urethral stricture, Sensor...	OMIM:617063
Arthrogryposis, Distal, Type 5	Protruding ear, High palate, Scoliosis, Kyphosis	OMIM:108145
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Thick lower lip vermilion, Failure to thrive in infancy...	OMIM:162300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Gastroesophageal reflux, Renal agenesis, Widely-spaced maxillary central incisors, ...	OMIM:301040
Treacher-Collins Syndrome	Open bite, Narrow mouth, Abnormality of the middle ear, High palate, Rectovaginal fistula, Cleft ...	ORPHA:861
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Ventricular escape rhythm, Obesity, Hyp...	ORPHA:98855
X-Linked Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Kyphosis, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Obesity...	ORPHA:98863
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia, Failure to thrive	OMIM:244450
Apert Syndrome	Bifid uvula, Ventriculomegaly, Conductive hearing impairment, Delayed eruption of teeth, Cervical...	ORPHA:87
Achondroplasia	Thoracolumbar kyphosis, Hearing impairment, Cervical spinal canal stenosis, Functional abnormalit...	ORPHA:15
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Scoliosis, Kyphosis	ORPHA:816
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Hearing impairment, Lumbar hyperlordosis, Glossoptosis, Short neck, Clef...	ORPHA:94068
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Ventricula...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Hypertrophic cardiomyopathy, Ventricula...	ORPHA:98853
Sialidosis Type 2	Nephropathy, Kyphosis, Hearing impairment	ORPHA:87876
Hurler-Scheie Syndrome	Aortic regurgitation, Heparan sulfate excretion in urine, Mitral regurgitation, Pulmonary arteria...	OMIM:607015
Fountain Syndrome	Abnormal form of the vertebral bodies, Thick lower lip vermilion, Wide mouth, Gingival overgrowth...	ORPHA:3219
Orofaciodigital Syndrome Iii	Low-set ears, Bifid uvula, Tongue nodules, Microdontia, Bifid tongue, Supernumerary tooth, Kyphosis	OMIM:258850
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ...	OMIM:156530
Noonan Syndrome 14	Aortic regurgitation, High, narrow palate, Low-set ears, Lateral ventricle dilatation, Long philt...	OMIM:619745
Schwartz-Jampel Syndrome	Pursed lips, Abnormality of the ureter, Narrow mouth, Decreased body weight, Arrhythmia, Short ne...	ORPHA:800
Rett Syndrome	Abnormality of the dentition, Gastroesophageal reflux, Prolonged QTc interval, Abnormal T-wave, C...	OMIM:312750
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h...	OMIM:177850
Bruck Syndrome 1	Platyspondyly, Abnormality of the dentition, Vertebral wedging, Hearing abnormality, Scoliosis, K...	OMIM:259450
Gorham-Stout Disease	Abnormality of the cervical spine, Abnormality of the internal auditory canal, Pleural effusion, ...	ORPHA:73
Sialidosis Type 1	Aminoaciduria, Abnormal form of the vertebral bodies, Urinary excretion of sialylated oligosaccha...	ORPHA:812
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Dilated cardiomyopathy, Arrhythmia, Kyphosis, Neuropathic spinal arthropathy	OMIM:615084
Heterotaxy, Visceral, 5, Autosomal	Renal hypoplasia, Absence of the sacrum, Pulmonary artery atresia, Total anomalous pulmonary veno...	OMIM:270100
Hajdu-Cheney Syndrome	Aortic valve stenosis, Low-set ears, Periodontitis, Hearing impairment, Open bite, Narrow mouth, ...	ORPHA:955
Monosomy 9Q22.3	Low-set ears, Ventriculomegaly, Abnormality of the vertebral column, Delayed eruption of teeth, L...	ORPHA:77301
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Renal cortical hyperechogenicity, Microcolon, Pulmonary hypoplasia, Anuria, ...	OMIM:619351
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Gastroesophageal reflux, Dilated third ventricle, Failure to thrive, Hearing im...	ORPHA:500055
Zttk Syndrome	Low-set ears, Narrow mouth, High palate, Aortic regurgitation, Downturned corners of mouth, Submu...	OMIM:617140
Thanatophoric Dysplasia Type 1	Platyspondyly, Ventriculomegaly, Hearing impairment, Abnormal sacroiliac joint morphology, Aplasi...	ORPHA:1860
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Macroglossia, Kyphosis, Hearing impairment	OMIM:151800
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Scoliosis, Kyphosis	OMIM:259440
Ruvalcaba Syndrome	Dental crowding, Abnormal vertebral epiphysis morphology, Narrow mouth, Hematuria, Thin vermilion...	ORPHA:3121
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Ventriculomegaly, Dysphagia, Kyphosis	ORPHA:500180
Cowden Syndrome 5	Colonic diverticula, Hearing impairment, Furrowed tongue, Narrow mouth, High palate, Scoliosis, H...	OMIM:615108
Lopes-Maciel-Rodan Syndrome	Dysphagia, Scoliosis, Kyphosis	OMIM:617435
Dubowitz Syndrome	Hypocholesterolemia, Acute lymphoblastic leukemia, Lymphoma, Neuroblastoma	OMIM:223370
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Aortic regurgitation, Hypospadias, Small for gestational age, Unilateral r...	ORPHA:464311
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Bronchiectasis, Dilatation of the renal pelvis, Interstitial...	OMIM:619708
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Hypospadias, Small for gestational age, Unilateral r...	ORPHA:464306
Pycnodysostosis	Abnormality of the dentition, Spondylolysis, Carious teeth, Dental malocclusion, Delayed eruption...	ORPHA:763
3M Syndrome	Hypospadias, Delayed eruption of teeth, Long philtrum, Abnormal dental enamel morphology, Increas...	ORPHA:2616
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Intellectual Developmental Disorder, X-Linked, Syndromic 33	High, narrow palate, Low-set ears, Ventriculomegaly, Gastroesophageal reflux, Hearing impairment,...	OMIM:300966
Focal Dermal Hypoplasia	Low-set ears, Telangiectasia, Stenosis of the external auditory canal, Oligodontia, Hypodontia, U...	OMIM:305600
Myofibrillar Myopathy 10	Increased QRS voltage, Prolonged QTc interval, Kyphosis	OMIM:619040
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Atelectasis, Pleural effusion, Rectal abscess, Air bronchogram	OMIM:306400
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys	OMIM:617914
Renal Agenesis, Bilateral	Low-set ears, Renal agenesis, Abnormal intestine morphology, Tracheoesophageal fistula, Abnormal ...	ORPHA:1848
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Hearing impairment, Death in childhood, Sensorineural hearing impairment, Recurre...	OMIM:211530
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Spondyloenchondrodysplasia	Platyspondyly, Vasculitis, Chronic kidney disease, Pneumonia, Dental malocclusion, Delayed erupti...	ORPHA:1855
Mgat2-Cdg	Gastroesophageal reflux, Dental crowding, Failure to thrive, Abnormal earlobe morphology, Promine...	ORPHA:79329
Sotos Syndrome	Abnormal vertebral morphology, Small cell lung carcinoma, Hearing impairment, Abnormality of the ...	ORPHA:821
Agnathia-Holoprosencephaly-Situs Inversus Syndrome

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