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Gene: Anp32b MGI:1914878

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Prune Belly Syndrome
Recurrent respiratory infections, Multicystic kidney dysplasia, Recurrent urinary tract infection... ORPHA:2970
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Otitis media, High-frequency hearing impairment OMIM:300455
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea... ORPHA:2838
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Hy... ORPHA:86816
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Conductive hearing impa... OMIM:616726
Lymphangiectasia, Intestinal
Stillbirth, Neonatal hypoproteinemia OMIM:152800
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Congenital Anomalies Of Kidney And Urinary Tract 2
Back pain, Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... OMIM:143400
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Congenital Absence Of Upper Arm And Forearm With Hand Present
Small for gestational age, Renal agenesis, Abnormal lung morphology, Cleft palate, Abnormality of... ORPHA:294975
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Cupped ear, Cleft palate, Protru... OMIM:616367
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Duodenal stenosis, Abno... ORPHA:2547
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
Sensorineural hearing impairment, Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Large for gestational age, Deep phi... OMIM:615398
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... OMIM:616834
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Refractory Celiac Disease
Hypomagnesemia, Lymphoma, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoprote... ORPHA:398063
Codas Syndrome
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... ORPHA:1458
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Thoracolumbar scoliosis, Hydrocephalus, Tracheoesophageal fist... ORPHA:2437
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Marden-Walker Syndrome
Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morphology, Multic... ORPHA:2461
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Delayed eruption of teeth, Hydroureter, Abnormal dental morpho... ORPHA:568
Raine Syndrome
Short neck, Protruding ear, High palate, Microdontia, Neonatal death, Death in infancy, Gingival ... OMIM:259775
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Hypertrophy of the urinary bladder, Large fleshy ears, Hi... ORPHA:280633
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis OMIM:617219
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, High palate, Scoliosis OMIM:611225
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia OMIM:274265
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Carpenter Syndrome 1
Sacral dimple, Hydroureter, Abnormal pinna morphology, Short neck, Persistence of primary teeth, ... OMIM:201000
Bronchogenic Cyst
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleur... ORPHA:2357
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... OMIM:236730
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Primary Intestinal Lymphangiectasia
Disseminated cutaneous warts, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypopro... ORPHA:90362
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Abnormal lung lobation, Renal cyst, Anteriorly placed anus, Neonat... OMIM:146510
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Hydroureter, Hydronephrosis OMIM:618240
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Neonatal death, Hypospadias, Esophageal atresia, Pulmonary artery stenosi... OMIM:265380
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism... ORPHA:1926
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Aplasi... ORPHA:3027
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Fetal Akinesia Deformation Sequence 4
Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, High palate, Prenatal death, Low-... OMIM:618393
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Oral ulcer, Recurrent otitis media, Recurrent lower respiratory trac... OMIM:620321
Trisomy 1Q
Multicystic kidney dysplasia, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Cleft palate, Cong... ORPHA:261344
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Koolen-De Vries Syndrome
Ureteral duplication, High, narrow palate, Protruding ear, Vertebral segmentation defect, Vesicou... ORPHA:96169
Prune Belly Syndrome
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana... OMIM:100100
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
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Unilateral renal agenesis, Ureteral atresia, V... OMIM:618845
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Atelectasis, ... OMIM:300219
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Sensorineural hearing impairment, Scoliosis, Short neck ORPHA:2744
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea OMIM:607765
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Narrow mouth, Man... OMIM:614669
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... ORPHA:93929
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Wolfram Syndrome, Mitochondrial Form
Sensorineural hearing impairment, Hydroureter, Hydronephrosis OMIM:598500
Weaver-Williams Syndrome
Narrow mouth, Cleft palate, Protruding ear ORPHA:3448
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Posteriorly rotated ears, Cleft lip, Cleft palate, Short philtrum, Ev... OMIM:616898
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Thin upper lip vermilion, Hydroureter, Posteriorly rotated ears, Short neck, Cryptorchidism, Clef... OMIM:610759
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Hypoplasia of the bladder, Hydroureter, Small for gestational age, Valv... OMIM:300707
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Hypospadias, Short neck, Abnormality of the ure... ORPHA:2487
Sandhoff Disease
Recurrent respiratory infections, Kyphosis, Congestive heart failure, Failure to thrive, Hearing ... ORPHA:796
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Death in infancy, Multicystic kidney dysplasia, Hydrou... ORPHA:2241
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa morphology, Abnormality... ORPHA:289
Bronchopulmonary Dysplasia
Small for gestational age, Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulm... ORPHA:70589
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm... ORPHA:1756
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, S... OMIM:305620
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Thin upper lip vermilion, Hydroureter, Posteriorly rotated ears, Unilateral ren... OMIM:619194
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon OMIM:619362
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Hydroureter, Aganglionic megacolon, Megacystis, Cleft palate, ... ORPHA:2604
Hardikar Syndrome
Vesicoureteral reflux, Bladder exstrophy, Thoracolumbar scoliosis, Cleft soft palate, Portal hype... OMIM:301068
Dengue Fever
Hypoproteinemia ORPHA:99828
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... OMIM:266510
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Sensorineural hearing impairment, Cardiomyopathy, Dysphagia, Tes... OMIM:222300
Fanconi Anemia
High palate, Hypospadias, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Azoospermia, Scoliosis... ORPHA:84
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Ureteral duplication, Hypoplasia of penis, Short neck, High, narrow palate, ... ORPHA:373
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2315
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Abnormal lung lobation,... ORPHA:369837
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia, St... OMIM:612290
Bresek Syndrome
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Hydrocephalus,... ORPHA:85284
Noonan Syndrome 9
Cryptorchidism, Hydroureter, Pulmonic stenosis, Short neck OMIM:616559
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... ORPHA:223
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Abnormal palate morphology, Round ear ORPHA:1450
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,... OMIM:610978
Oeis Complex
Duplicated collecting system, Absence of the sacrum, Hydroureter, Renal agenesis, Intestinal malr... OMIM:258040
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Portal hypertension, Megacystis, Hydronephrosis, Microcolon OMIM:619431
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Recurrent respiratory infections ORPHA:85288
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Large for gestational age, Large fleshy ears, High palate, Gastroesophageal... OMIM:614080
Autosomal Recessive Spastic Paraplegia Type 53
Abnormality of the auditory canal, Kyphosis, Failure to thrive, Ventriculomegaly, Hearing impairment ORPHA:319199
Branchiootorenal Syndrome 1
High palate, Vesicoureteral reflux, Conductive hearing impairment, Microdontia, Bifid uvula, Dila... OMIM:113650
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Short neck, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Lo... OMIM:236500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Ureterocel... OMIM:604292
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... ORPHA:2973
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Gastrointestinal inflammation, A... ORPHA:79404
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia... ORPHA:70588
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... OMIM:618156
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Hypospadias, Abnormality of the dentition, Kyphosis, Aplasia/Hy... ORPHA:1548
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Mcdonough Syndrome
Low-set, posteriorly rotated ears, Cachexia, Open bite, Cryptorchidism, Kyphosis, Dental malocclu... ORPHA:2471
Emanuel Syndrome
Dental crowding, High palate, Gastroesophageal reflux, Micropenis, Dandy-Walker malformation, Cry... OMIM:609029
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Asbestos Intoxication
Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morp... ORPHA:2302
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Posteriorly rotated ears, Kyphosis, Decreased body weight, Macrotia OMIM:618392
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Short neck, Wide ... ORPHA:2995
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Hearing impairment OMIM:618237
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Penile Agenesis
Urethral atresia, male, Posteriorly rotated ears, Hydroureter, Rectal fistula, Cryptorchidism, Fe... ORPHA:49
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Axial Mesodermal Dysplasia Spectrum
Short neck, Renal hypoplasia/aplasia, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter... ORPHA:1834
Abruzzo-Erickson Syndrome
Cleft palate, Macrotia, Hearing impairment, Protruding ear OMIM:302905
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia ORPHA:276630
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Kyphosis, Hydrocephal... ORPHA:2635
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Ureterocele, Vesicour... OMIM:129900
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Hydroureter, Obesity, Horseshoe kidney, Ant... OMIM:619426
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Protruding ear, Nephrocalcinosis, Oligosacchariduria,... ORPHA:534
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Atelectas... ORPHA:2902
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Posteriorly rotated ears, Dental crowding, Cupped ear, Mandi... OMIM:602483
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Chand Syndrome
Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morph... ORPHA:1401
Coffin-Siris Syndrome 1
Conical tooth, Ectopic kidney, Short philtrum, High palate, Microdontia, Spina bifida occulta, Da... OMIM:135900
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... ORPHA:70587
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Dysphagia, Bronchiolitis ORPHA:254361
Noonan Syndrome 4
Ureteral duplication, Posteriorly rotated ears, Short neck, Large for gestational age, Cryptorchi... OMIM:610733
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Kyphosis, Obesity, Scoliosis, Micropenis, Macrotia, Scheuermann-like vertebral ch... OMIM:301900
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Cryptorchidism, Kyphosis, High palate, Scoliosis, Low-set ears, Neonatal death OMIM:611890
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Tongue fasciculations, Narrow mouth OMIM:620007
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla... OMIM:600057
Chylomicron Retention Disease
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Cockayne Syndrome Type 3
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Carious teeth, K... ORPHA:90324
Ck Syndrome
Posteriorly rotated ears, Dental crowding, Hyperlordosis, Kyphosis, High palate, Scoliosis, Slend... OMIM:300831
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted lower lip vermilion, Sho... ORPHA:2429
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Waardenburg Syndrome Type 3
Atelectasis, Tented upper lip vermilion, Hearing impairment ORPHA:896
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Abnormal pinna morphology, Posteriorly rotated ears, Hamartoma of ... OMIM:269860
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Conductive hearing impairmen... OMIM:244400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis, Hearing impairment OMIM:617087
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis OMIM:300718
Aase-Smith Syndrome I
Death in infancy, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walke... OMIM:147800
15Q24 Microdeletion Syndrome
Small for gestational age, Hypospadias, Abnormality of the dentition, Cryptorchidism, Kyphosis, T... ORPHA:94065
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... ORPHA:2314
Bor Syndrome
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Abnormalit... ORPHA:107
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Kyphosis, High palate, Short philtrum, Low-set ears, Micropenis, Macrotia, Decrea... OMIM:615433
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Kyphosis, Thick lower lip vermilion, Widely spaced tee... OMIM:619797
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Microdontia, Renal neoplasm, Repeated pneumothoraces, Atelectasis, Low-set ears, Sco... ORPHA:536467
Hall-Riggs Syndrome
Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregular vertebral endplates,... OMIM:234250
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Cleft palate, Protruding ear, Short philtrum, Scoliosis ORPHA:85317
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Obesity, Scoliosis OMIM:616756
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia OMIM:618453
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Abnormal pinna morphology, Intestinal malrotation, Kyphosis, Deep philtrum, Orofacial cleft, Inco... ORPHA:77300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Tricuspid regurgitation, Ground-glass opacification, Atelectasis, Bronc... OMIM:620233
3C Syndrome
Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Orofacial cleft, Gastroesoph... ORPHA:7
Alpha-Mannosidosis
Recurrent respiratory infections, Short neck, Open bite, Kyphosis, Dental malocclusion, Gingival ... ORPHA:61
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Dental crowding, Hypospadias, Hyperlordosis, Kyphosis, D... OMIM:615761
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Orofacial cleft, Cleft palate, Microtia, Atresia of the external auditory ... OMIM:141400
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Abnormal ... ORPHA:231169
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... ORPHA:3348
Masa Syndrome
Kyphosis, Hydrocephalus, Ventriculomegaly, Hyperlordosis OMIM:303350
Fryns Syndrome
Ureteral duplication, Tented upper lip vermilion, Short neck, Large for gestational age, Renal cy... OMIM:229850
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Dysphagia, Scoliosis, Spinal rigidity OMIM:618323
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Recurrent urinary tract infections, Hydrou... ORPHA:105
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Pulmonary hypoplasia, P... OMIM:236700
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Protruding tongue, Hyperlordosis, Atelectasis, Dysphagia, Macroglossia, Cardiomyopathy, Reduced l... ORPHA:258
Vici Syndrome
Recurrent respiratory infections, Death in infancy, Sensorineural hearing impairment, Ureteral at... ORPHA:1493
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, E... ORPHA:2869
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Death in infancy, Ureteral duplication, Renal insufficiency, Posteriorly rotated... OMIM:608836
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Congenital... ORPHA:2617
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Proteinuria, Kyphosis, Chronic ... ORPHA:261222
Oculoauriculovertebral Spectrum With Radial Defects
Distal urethral duplication, Abnormality of the middle ear ossicles, Renal hypoplasia/aplasia, Se... ORPHA:2549
Trisomy 13
Median cleft lip, Abnormality of the dentition, Cryptorchidism, Sensorineural hearing impairment,... ORPHA:3378
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Short neck, Macroglossia, L... OMIM:269150
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve... OMIM:602200
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Low-set ears, A... OMIM:270420
Microphthalmia, Syndromic 1
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Lumbar hyper... OMIM:309800
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... OMIM:214300
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Kyphosis, Deep philtrum, Narrow mouth, Wide mouth, Short philtrum, Thi... OMIM:615834
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Hypocholesterolemia OMIM:618810
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Microtia, Short mandibu... OMIM:141300
22Q11.2 Deletion Syndrome
Short neck, Anorectal anomaly, Abnormal lung lobation, Short philtrum, Gastroesophageal reflux, C... ORPHA:567
Zimmermann-Laband Syndrome 3
Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula OMIM:618658
Winchester Syndrome
Kyphosis, Gingival overgrowth OMIM:277950
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Posteriorly rotated ears,... ORPHA:2636
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormality of the pulmonary artery, Abnormal form of the vertebral bodies, Death in in... ORPHA:1354
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Gastroesophageal reflux, Scoliosis OMIM:300434
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Scoliosis, Hypertrophic cardi... OMIM:618234
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Thin upper lip vermilion OMIM:609384
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Tented upper lip vermilion, Tricuspid regurgitation, Sensori... OMIM:618460
Distal Deletion 10Q
Smooth philtrum, Thin upper lip vermilion, Failure to thrive, Lumbar hyperlordosis, Congenital se... ORPHA:96148
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hypospadias, Short neck, External ear malformation, Cryptorchidism, Sensori... ORPHA:254346
Cdkl5-Deficiency Disorder
Kyphosis, Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis ORPHA:505652
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Kyphosis, Sensorineural hearing impairment,... ORPHA:314588
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Kyphos... ORPHA:79327
Marden-Walker Syndrome
Hypospadias, Short neck, Cryptorchidism, Kyphosis, High, narrow palate, Narrow mouth, Pyloric ste... OMIM:248700
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Prominent median ... OMIM:300602
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, High palate, Scoliosis, Long philtrum ORPHA:2598
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Cryptorchidism, Kyphosis, High palate, Scoliosis, Low-set ears ORPHA:178148
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... ORPHA:93101
Crisponi Syndrome
Death in infancy, Sudden cardiac death, Kyphosis, Narrow mouth, High palate, Scoliosis, Long phil... ORPHA:1545
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Hyperlordosis, Respiratory tract infection, Atelectasis, Vasculitis, S... ORPHA:365
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Small for gestational age, Hypospadias, Cryptorchidism, Sensorineural hearin... OMIM:300661
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Kyphosis, Hydrocephalus, High, narrow palate, Scoliosis ORPHA:2181
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Hypospadias, Uplifted earlobe, Kyphosis, Recurrent pneumonia, Cleft p... OMIM:616449
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Failure to thrive, Hydroureter, Aganglionic megacolon, Abnormal... ORPHA:2273
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abnormal pinna morphology, Hypospadias, Cryptorchidism, Kyphosis, Thick lower lip vermilion, Wide... OMIM:300354
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Hypospadias, Short ne... ORPHA:2311
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter, Aplasia/Hy... ORPHA:1046
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... ORPHA:90041
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the philtrum, Short neck, Cryptorchidism, Kyphosis, Aplasia/H... ORPHA:3409
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Re... OMIM:617666
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia, Cleft palate OMIM:243440
Zygomycosis
Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Colitis, Nephr... ORPHA:73263
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Koolen-De Vries Syndrome
Anteverted ears, High palate, Widely spaced teeth, Vesicoureteral reflux, Vertebral fusion, Cleft... OMIM:610443
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Renal neop... ORPHA:538
Kleefstra Syndrome 2
Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis OMIM:617768
Diphallia
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... ORPHA:227
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Abnormality of the upper urinar... ORPHA:2916
Smith-Magenis Syndrome
Tented upper lip vermilion, Failure to thrive in infancy, Delayed eruption of primary teeth, Clef... ORPHA:819
Trisomy 20P
Short neck, Abnormal form of the vertebral bodies, Protruding ear, Downturned corners of mouth, V... ORPHA:261318
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Vesicoureteral reflux, Nephropathy, Posterior he... ORPHA:116
Baralle-Macken Syndrome
Kyphosis, Urinary incontinence, Obesity, High, narrow palate OMIM:619255
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Atelectasis, Rectal prolapse, Recurrent pneumonia, Pyloric stenosis, Death in c... OMIM:613177
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ... ORPHA:2522
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Hearing impairment ORPHA:101075
Auriculocondylar Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Dental crowding, Cleft helix, Hamar... ORPHA:137888
4Q21 Microdeletion Syndrome
Short neck, Abnormality of the dentition, Kyphosis, Downturned corners of mouth, Thin vermilion b... ORPHA:238750
Wieacker-Wolff Syndrome, Female-Restricted
Posteriorly rotated ears, Urinary incontinence, Short neck, Kyphosis, Cleft palate, Dysphagia, Do... OMIM:301041
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Sensorineural hearing impairment, Deep philtrum, Gingival overgrowth, Macro... OMIM:616455
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Obesity, Cystic renal dysplasia OMIM:615989
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Sensorineural hearing impairment, Cleft palate OMIM:612370
Harrod Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Kyphosis, Dental malocclusion, Protrud... ORPHA:2115
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Ventriculomegaly OMIM:230650
Fryns Syndrome
Tented upper lip vermilion, Short neck, High palate, Gastroesophageal reflux, Vesicoureteral refl... ORPHA:2059
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Cryptorchidism, Kyphosis, Narrow mouth, Short philtrum, Scoliosis, Low... ORPHA:352490
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Fraser Syndrome 3
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Abnormal lung lobation, Ureteral a... OMIM:617667
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Stankiewicz-Isidor Syndrome
Ureteral duplication, Sacral dimple, Hypospadias, Cryptorchidism, Low-set ears, Micropenis, Heari... OMIM:617516
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Cryptorchidism, Kyphosis, Narrow palate, Micropenis, Short upper lip, Short phi... ORPHA:364028
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... ORPHA:411709
Orofaciodigital Syndrome Type 5
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... ORPHA:2919
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Anteverted ears, Deep philtrum, Vesicoureteral reflux, Thickened helices, Micrope... OMIM:617641
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, High, narrow palate, Obesity, Scoliosis OMIM:618124
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Cryptorchidism, Kyphosis, Ab... ORPHA:628
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Kyphosis, Sensorineural hearing impairment, Orofacial cleft, Macrogloss... ORPHA:79107
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Kyphosis, Non-midline cleft lip, Hydro... ORPHA:2075
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Cryptorchidism, Deep philtrum, Kyphosis, Cleft ... ORPHA:404440
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... ORPHA:14
Schaaf-Yang Syndrome
Abnormality of the philtrum, Failure to thrive in infancy, Cryptorchidism, Kyphosis, Obesity, Mic... OMIM:615547
Beta-Mercaptolactate Cysteine Disulfiduria
Low-set, posteriorly rotated ears, Abnormality of the ureter, Obesity, High palate, Hypoplasia of... ORPHA:1035
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Hearing impairment ORPHA:101078
Aredyld Syndrome
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Cachexia, Abnormality of th... ORPHA:1133
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Cryptorchidism, Kyphosis, Dilated cardiomyopathy, Dysphagia, Protruding ear, Wi... ORPHA:261250
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormality of the tongue, Cleft palate, Abnormal form of the vertebral bod... ORPHA:3098
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Microdontia, Peg-s... OMIM:610706
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, High palate, Scoliosis OMIM:300676
Thanatophoric Dysplasia
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Platysp... ORPHA:2655
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Hemivertebrae, High palate, Scoliosis, Low-set ears, Ureteral triplication, Hydron... OMIM:104350
Orofaciodigital Syndrome V
Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorc... OMIM:174300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Short neck, Renal cyst, Widely spaced teeth, High palate, Nephronophthisis,... OMIM:266920
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short neck, Kyphosis, Downturned corners ... ORPHA:2983
Kabuki Syndrome
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Orofac... ORPHA:2322
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Intestinal malrotation, Portal hypertension, Ureteral atresia, Stage 5 chron... OMIM:208540
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Kyphosis, Premature loss of teeth, Gingival overgrowth, Protruding ear... ORPHA:137834
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Non-midline cleft lip, Abnormal form of the vertebral bodies, Cleft palate, Aplas... ORPHA:3429
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Pulmonary cyst, Large for gestational age, Kyphosis, Nephroblastoma, Enlarged kidney OMIM:618272
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal duplication, Oral mucosal blisters, Urinary bladder inflammation, Conge... ORPHA:79403
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Atelectasis, Myocarditis, Odynophagia, Oliguria, Subconjunctival hemo... ORPHA:319213
Branchiootic Syndrome
Lip pit, Sensorineural hearing impairment, Abnormality of the inner ear, Cleft palate, Atresia of... ORPHA:52429
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Dextrocardia
Abnormal EKG, Intestinal malrotation, Hydrocephalus, Abnormal renal morphology, Abnormal lung lob... ORPHA:1666
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Low-set ears, Bifid uvula OMIM:616258
Whim Syndrome
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... ORPHA:51636
15Q14 Microdeletion Syndrome
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Low-set ears, Sm... ORPHA:261190
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Spinal rigidity, Kyphosis, Dilate... ORPHA:352447
Schinzel-Giedion Syndrome
Short neck, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, High ... ORPHA:798
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short neck, Kyphosis, Obesity, Scoliosis, Microdontia, Arrhythmia ORPHA:3191
Crouzon Syndrome
Abnormal sacrum morphology, Hydrocephalus, Narrow palate, Conductive hearing impairment, Narrow i... ORPHA:207
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Macroglossia, Scoliosis, Dysphagia, Ventriculomegaly OMIM:606612
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... ORPHA:449395
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Viscer... ORPHA:2929
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss ORPHA:29073
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Multicystic kidney dysplasia, Ventriculom... ORPHA:261349
7Q31 Microdeletion Syndrome
Recurrent respiratory infections, Hypoplasia of the cochlea, Dysphagia, Enuresis nocturna, Wide m... ORPHA:251061
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Kyphosis, Protruding ear, High palate, Scoliosis, Recurrent lower respiratory tr... OMIM:254090
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis, Wide mouth, Low-set ears, Long philtrum, Polycystic kidney dysplasia, Failu... OMIM:608776
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Recurrent upper respiratory tract infections, Thick... ORPHA:583
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Kyphosis, Sensorineural hearing impairment, Obesity, Downturned corners of ... ORPHA:464282
Lateral Meningocele Syndrome
Posteriorly rotated ears, Dental crowding, Abnormality of the middle ear ossicles, Short neck, Cr... ORPHA:2789
Uruguay Faciocardiomusculoskeletal Syndrome
Posteriorly rotated ears, Kyphoscoliosis, Kyphosis, Cardiomyopathy, Mitral regurgitation, Thick v... OMIM:300280
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Cryptorchidism, Kyphosis, Lateral ventricle... OMIM:619244
Silver-Russell Syndrome 1
Urethral valve, Small for gestational age, Hypospadias, Abnormality of the ureter, Downturned cor... OMIM:180860
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Posteriorly rotated ears, Dental crowding, Abnormality of t... OMIM:130720
Mucopolysaccharidosis, Type Vii
Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Anterior beaking of lower ... OMIM:253220
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Everted upper lip vermilion, Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism,... OMIM:619951
Skin Creases, Congenital Symmetric Circumferential, 2
Thin upper lip vermilion, Posteriorly rotated ears, Hypospadias, Uplifted earlobe, Short neck, Ca... OMIM:616734
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Narrow m... OMIM:618443
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the earlobes, Ab... ORPHA:3082
Congenital Heart Defects And Skeletal Malformations Syndrome
Dental crowding, Repeated pneumothoraces, Intestinal malrotation, Hypospadias, Carious teeth, Cry... OMIM:617602
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Short neck, Renal hypoplasia... ORPHA:958
Robinow Syndrome, Autosomal Dominant 3
Short neck, Anteriorly placed anus, Downturned corners of mouth, Vesicoureteral reflux, Pulmonary... OMIM:616894
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Kyphosis, Hydrocephalus, Aplasia/Hypoplasia of the lungs, Platyspondyl... ORPHA:93274
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Ventriculomegaly, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... ORPHA:2036
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Congenital pyloric atresia, M... ORPHA:158684
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Protruding ear, Down... ORPHA:236
Stickler Syndrome, Type I
Kyphosis, Sensorineural hearing impairment, Submucous cleft hard palate, Pierre-Robin sequence, C... OMIM:108300
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Urethral d... OMIM:212093
Alg9-Cdg
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Villous atrophy, Tricuspid regurgita... ORPHA:79328
Baller-Gerold Syndrome
Failure to thrive in infancy, Malabsorption, Abnormality of the ureter, Vesicoureteral reflux, Cl... ORPHA:1225
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Digeorge Syndrome
High, narrow palate, High palate, Short philtrum, Gastroesophageal reflux, Bifid uvula, Atelectas... OMIM:188400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Dental malocclusion, Scoliosis, Abnormality of the dentition ORPHA:1858
Secondary Intestinal Lymphangiectasia
B-cell lymphoma, Reduced circulating transferrin concentration, Lymphoma, Hypoalbuminemia, Hypoch... ORPHA:90363
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:615290
Relapsing Polychondritis
Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna, Atelectasis,... ORPHA:728
Alagille Syndrome
Peripheral pulmonary artery stenosis, Failure to thrive, Telangiectasia of the skin, Renal hypopl... ORPHA:52
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Short neck, Heparan sulfate excretion i... OMIM:309900
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis OMIM:618484
Farber Disease
Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract infections, Dif... ORPHA:333
Congenital Muscular Dystrophy, Ullrich Type
Spinal rigidity, Short neck, Kyphosis, Scoliosis, Abnormal palate morphology ORPHA:75840
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis OMIM:618512
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... OMIM:614527
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Abnormal dental morphology, Abnormal dental enamel morphology, ... ORPHA:3253
Shashi-Pena Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Unilateral renal agenesis, Kyphosis, Cupped e... OMIM:617190
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Dilated cardiomyopathy... OMIM:607155
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, High palate, Broad alveolar ridges, Scoliosis, Low-set ears,... OMIM:314580
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Tetraamelia Syndrome 2
Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft palate, Bilateral lung agenesis, Glossopt... OMIM:618021
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, High, narrow palate, Scoliosis, Failure to thrive ORPHA:536516
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Decreased testicular size ORPHA:1875
Peters Plus Syndrome
Ureteral duplication, Short neck, Abnormal pulmonary vein morphology, Widely spaced teeth, Conduc... ORPHA:709
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Sensorineural hearing impairment, Kyphosis, Obesity, Decreased tes... ORPHA:3085
Gm1 Gangliosidosis
Recurrent respiratory infections, Failure to thrive, Hyperlordosis, Kyphosis, Narrow mouth, Conge... ORPHA:354
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the odontoid process, Kyphos... OMIM:253010
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Bilateral cryptorchidism, Anteriorly placed anus, Glosso... OMIM:602535
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Renal hypoplasia/aplasia, Non-mid... ORPHA:1770
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Hypomelanosis Of Ito
Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis OMIM:300337
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Short neck, Open bite, Kyphosis, Thick lower lip vermilion, Abnorm... ORPHA:85293
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Saethre-Chotzen Syndrome
Hyperlordosis, Prominent crus of helix, Cryptorchidism, External ear malformation, Sensorineural ... ORPHA:794
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Abnormal pinna morphology, Kyphosis, Subdural hemorrhage, Lateral ventricle dilata... OMIM:618291
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Coffin-Lowry Syndrome
Delayed eruption of teeth, Death in early adulthood, Abnormal dental morphology, Kyphosis, Sensor... ORPHA:192
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Tricuspid regurgitation, Dental crowding, Spinal rigidity, Kyphosis, Normal p... OMIM:620351
Alg12-Cdg
Hyponatremia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Pelger-Huet Anomaly
Abnormality of the dentition, Kyphosis, Gingival overgrowth, Recurrent otitis media, Failure to t... OMIM:169400
Pierson Syndrome
Hypoproteinemia OMIM:609049
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Kyphosis, Abnormality o... ORPHA:702
Woolly Hair Nevus
Enlarged vestibular aqueduct, Widely-spaced incisors ORPHA:79414
Gm1-Gangliosidosis, Type I
Death in infancy, Short neck, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Gingiva... OMIM:230500
Myopathy, Centronuclear, 2
Kyphosis, High palate, Scoliosis, Hyperlordosis OMIM:255200
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Short lingual frenulum, Renal agenesis, Bilateral cryptorchidism, Midgut ma... ORPHA:2326
Mucolipidosis Iii Gamma
Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis OMIM:252605
Foxg1 Syndrome Due To 14Q12 Microdeletion
Tented upper lip vermilion, Kyphosis, Protruding ear, Abnormal antihelix morphology, Macroglossia... ORPHA:261144
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Hurler Syndrome
Aortic regurgitation, Recurrent respiratory infections, Short neck, Heparan sulfate excretion in ... OMIM:607014
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners ... ORPHA:1507
Peters-Plus Syndrome
Ureteral duplication, Short lingual frenulum, Short neck, Hemivertebrae, Protruding ear, Anterior... OMIM:261540
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Kyphosis, High, narrow palate, ... ORPHA:464738
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hemivertebrae, Widely-spaced maxillary central incisors, Gastroesophageal reflux, Micropenis, Hyp... OMIM:301040
Esophageal Atresia
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Abnormality of the ear, Gastroesopha... ORPHA:1199
Meier-Gorlin Syndrome 7
Urethral stricture, Heart block, Anteriorly placed anus, Vertebral segmentation defect, High pala... OMIM:617063
Flynn-Aird Syndrome
Cachexia, Carious teeth, Kyphosis, Scoliosis, Progressive sensorineural hearing impairment ORPHA:2047
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Urinary incontinence, Scoliosis, Hearing impairment OMIM:614409
Alstrom Syndrome
Renal insufficiency, Abnormality of the dentition, Kyphosis, Congestive heart failure, Recurrent ... OMIM:203800
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis, Hearing impairment ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis, Hearing impairment OMIM:610743
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Abnormali... ORPHA:582
Noonan Syndrome 14
Aortic regurgitation, Posteriorly rotated ears, Short neck, Cryptorchidism, Kyphosis, High, narro... OMIM:619745
Cat Eye Syndrome
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Rectal atresia, Volvulus, ... OMIM:115470
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis OMIM:112350
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis, Protruding ear OMIM:300861
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis... OMIM:162300
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Congestive heart failure, Hydrocephalus, Pl... OMIM:616482
Treacher-Collins Syndrome
Hypoplasia of penis, Glossoptosis, High palate, Conductive hearing impairment, Abnormal dental mo... ORPHA:861
Schwartz-Jampel Syndrome
Short neck, High palate, Decreased body weight, Low-set, posteriorly rotated ears, Pursed lips, A... ORPHA:800
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Dental crowding, Kyphosis, Dysphagia, Oligodontia, High palate, Short p... OMIM:617061
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... ORPHA:98855
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis, Death in childhood, Failure to... OMIM:618278
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, ... ORPHA:98863
Apert Syndrome
Delayed eruption of teeth, Esophageal atresia, Sensorineural hearing impairment, Hydrocephalus, A... ORPHA:87
Cowden Syndrome 5
Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Hamartomatous polyposis, High p... OMIM:615108
Arthrogryposis, Distal, Type 5
Kyphosis, High palate, Scoliosis, Protruding ear OMIM:108145
Ruvalcaba Syndrome
Dental crowding, Cryptorchidism, Kyphosis, Abnormal localization of kidney, Hematuria, Thin vermi... ORPHA:3121
Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Sudden cardiac death, Spinal rigidity, Hyperlordosis, Kypho... ORPHA:98853
Sjögren-Larsson Syndrome
Kyphosis, Abnormal dental enamel morphology, Scoliosis ORPHA:816
Orofaciodigital Syndrome Iii
Kyphosis, Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Sialidosis Type 2
Kyphosis, Nephropathy, Hearing impairment ORPHA:87876
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Heparan sulfate excretion in urine, Kypho... OMIM:607015
Fountain Syndrome
Kyphosis, Sensorineural hearing impairment, Thick lower lip vermilion, Gingival overgrowth, Abnor... ORPHA:3219
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Kyphosis, Dilated third ventricle, Hydrocephalus, Gastroesophageal re... ORPHA:500055
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Spinal canal stenosis, Cervical spinal canal steno... ORPHA:15
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Rett Syndrome
Cachexia, Abnormality of the dentition, Kyphosis, Gastroesophageal reflux, Scoliosis, Abnormal T-... OMIM:312750
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Kyphosis, Sensorineural hearing impairment, Thi... ORPHA:812
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasi... OMIM:615067
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, High, narrow palate,... OMIM:177850
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, Arrhythmia OMIM:615084
Brown-Vialetto-Van Laere Syndrome 1
Recurrent respiratory infections, Tongue atrophy, Kyphosis, Sensorineural hearing impairment, Dys... OMIM:211530
Gorham-Stout Disease
Pleural effusion, Abnormality of the cervical spine, Abnormality of the internal auditory canal, ... ORPHA:73
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Nephroblastoma, Short neck, Large ... ORPHA:77301
Isotretinoin-Like Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Microtia, Atresia of th... ORPHA:2306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Small for gestational age, Hypospadias, Unilateral renal agenesis, Cryptorc... ORPHA:464311
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Bidirectiona... OMIM:619351
Cowden Syndrome 6
Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Hamartomatous polyposis, High p... OMIM:615109
Micro Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Kyphosis, Abnormal locali... ORPHA:2510
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Failure to thrive, Small for gestational age, Hypospadias, Unilateral renal... ORPHA:464306
Thanatophoric Dysplasia Type 1
Abnormality of the kidney, Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Aplasia... ORPHA:1860
Focal Dermal Hypoplasia
Ureteral duplication, Anteriorly placed anus, Oligodontia, Spina bifida occulta, Cleft upper lip,... OMIM:305600
Hajdu-Cheney Syndrome
Short neck, Downturned corners of mouth, Periodontitis, Hypospadias, Open bite, Multiple renal cy... ORPHA:955
Zttk Syndrome
Unilateral lung agenesis, Hemivertebrae, Protruding ear, Downturned corners of mouth, High palate... OMIM:617140
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis, Dysphagia OMIM:617435
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Telangiectasia of the skin, Cryptorchidism, Sensorineural hearing impairment, Ky... OMIM:615381
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis OMIM:259440
Sotos Syndrome
Ureteral duplication, No permanent dentition, Gastroesophageal reflux, Conductive hearing impairm... ORPHA:821
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Ventriculomegaly, Dysphagia ORPHA:500180
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Dubowitz Syndrome
Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma, Hypocholesterolemia OMIM:223370
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Abnormality of the d... ORPHA:193
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Thin upper lip vermilion, Sacral dimple, Short neck, Oral-pharyngeal dysphagia, Kyphosis, High, n... OMIM:300966
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Microglossia, Narrow internal auditory canal, Sy... ORPHA:990
Pycnodysostosis
Delayed eruption of primary teeth, Hyperlordosis, Persistence of primary teeth, Kyphosis, Abnorma... ORPHA:763
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Myofibrillar Myopathy 10
Kyphosis, Prolonged QTc interval, Increased QRS voltage OMIM:619040
3M Syndrome
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short n... ORPHA:2616
Ruvalcaba Syndrome
Cryptorchidism, Kyphosis, Dental crowding, Scoliosis OMIM:180870
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, Inflammation of... OMIM:619708
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Downturned corners of mouth, Short philtrum, Chronic otiti... ORPHA:280
Spondyloenchondrodysplasia
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Proteinuria, Pneumonia, Raynaud... ORPHA:1855
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Oral melanotic macule, Hamar... OMIM:175200
Cockayne Syndrome Type 2
Delayed eruption of primary teeth, Cryptorchidism, Kyphosis, Widely spaced primary teeth, Scolios... ORPHA:90322
Renal Agenesis, Bilateral
Renal agenesis, Abnormal sacrum morphology, Non-midline cleft lip, Tracheoesophageal fistula, Cle... ORPHA:1848
Poland Syndrome
Duplicated collecting system, Hypospadias, Short neck, Renal hypoplasia/aplasia, Cryptorchidism, ... ORPHA:2911
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Short neck, Abnormal lung lobation, Abnormal form of the vertebral bodies, G... ORPHA:818
Jaberi-Elahi Syndrome
Kyphosis, Protruding ear, Scoliosis, Low-set ears, Triangular mouth, Failure to thrive, Dandy-Wal... OMIM:617988
Mgat2-Cdg
Low-set, posteriorly rotated ears, Posteriorly rotated ears, Dental crowding, Kyphosis, Abnormal ... ORPHA:79329
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Short neck, Kyphosis, Cleft palate, Scoliosis, Low-set ears, ... ORPHA:140
Mednik Syndrome
Death in infancy, Jejunal atresia, Sensorineural hearing impairment, Death in childhood, Neonatal... OMIM:609313
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Absence of the sacrum, Bilateral trilobed lung, Ureteral duplication,... OMIM:270100
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Ventriculomegaly, Tented upper lip vermilion, Posteriorly rotated ears, Kyphosis, Dysphagia, High... OMIM:617527
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Kyphosis, Sensorineural hearing impairment, Scoliosis ORPHA:1883
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, High, narrow palate, Duplication of renal pelvis, Long philtrum, Macrotia ORPHA:457212
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Hypospadias, Thoracolumbar scoliosis, Short neck, Crypt... OMIM:265000
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... ORPHA:261265
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dental crowding, Decreased heart rate variability, Cryptorchidism, Kyphosis, High palate, Thick v... OMIM:619005
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Multiple Pterygium-Malignant Hyperthermia Syndrome
Posteriorly rotated ears, Exaggerated cupid's bow, Cryptorchidism, Kyphosis, Narrow mouth, Cleft ... ORPHA:2215
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Ventriculomegaly, Tented upper lip vermilion, Kyphosis, Sensor... ORPHA:521426
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Abnormality of the dentit... ORPHA:1798
Mend Syndrome
Sacral dimple, Crossed fused renal ectopia, Posteriorly rotated ears, Dandy-Walker malformation, ... OMIM:300960
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis, Narrow mouth, Smooth phil... OMIM:251450
Meckel Syndrome
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hy... ORPHA:564
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Pleural effusion OMIM:306400
X-Linked Intellectual Disability, Snyder Type
Dental crowding, Hypospadias, Asymmetry of the ears, Kyphoscoliosis, Ectopic kidney, Cryptorchidi... ORPHA:3063
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Kyphosis, Hydrocephalus, Mitral regurgitation, Ventriculomegaly OMIM:603387
Osteogenesis Imperfecta, Type Iii
Kyphosis, Scoliosis, Pulmonary arterial hypertension, Biconcave vertebral bodies, Dentinogenesis ... OMIM:259420
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Large for gestational age, Sensorineural hearing impairment, Renal cyst, Protr... OMIM:617107
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Restrictive Dermopathy 1
Natal tooth, Ureteral duplication, Hypospadias, Kyphoscoliosis, Submucous cleft hard palate, Stil... OMIM:275210
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... ORPHA:2473
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Death in infancy, Renal malrotation, Dilatation of the renal pelvis, Cleft ... OMIM:274000
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Sensorineural hearing impairment, Protruding ear, High palate, Short philtrum, Scoliosi... ORPHA:2479
Mosaic Trisomy 20
Vertebral fusion, Abnormality of the kidney, Cryptorchidism, Kyphosis, Cleft lip, Spinal canal st... ORPHA:1724
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Cdags Syndrome
Hypospadias, Rectourethral fistula, Kyphosis, Sensorineural hearing impairment, Cleft palate, Rec... OMIM:603116
Fucosidosis
Abnormality of the dentition, Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebr... ORPHA:349
Williams Syndrome
Hypoplasia of penis, Myocardial infarction, Rectal prolapse, Abnormal form of the vertebral bodie... ORPHA:904
Cowden Syndrome 1
Colonic diverticula, Kyphosis, Furrowed tongue, Hydrocele testis, Hamartomatous polyposis, High p... OMIM:158350
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Posteriorly rotated ears, Hyperlordosis, Large for gestational age, ... OMIM:617011
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, High palate, Scoliosis ORPHA:171436
2Q31.1 Microdeletion Syndrome
Short neck, Cryptorchidism, Kyphosis, Deep philtrum, Cleft palate, Downturned corners of mouth, V... ORPHA:251014
Alexander Disease
Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Aqueductal stenosis, Hydrocephalus, Dy... ORPHA:58
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Thin upper lip vermilion, Cryptorchidism, Kyphosis, Xerostomia,... ORPHA:398069
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Hypospadias, Kyphosis, Cleft palat... ORPHA:85199
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Asymmetry of the mouth, Cryptorchidism, Kypho... ORPHA:401973
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Acrorenal-Mandibular Syndrome
Posteriorly rotated ears, Renal agenesis, Kyphoscoliosis, Hemivertebrae, Abnormality of the urete... OMIM:200980
Stickler Syndrome
Abnormal form of the vertebral bodies, Glossoptosis, Gastroesophageal reflux, Chronic otitis medi... ORPHA:828
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Cleft lip, Cupped ear, Hemivertebrae, Narrow palate, Cleft palate, Low-set ... OMIM:618223
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Oligodontia, Hearing impairment ORPHA:324737
Atelis Syndrome 2
Sacral dimple, Diastema, Kyphosis, Thick lower lip vermilion, Protruding ear, Downturned corners ... OMIM:620185
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Urinary incontinence, Abnormality of the dentition, Kyphosis, Eruption failure, ... ORPHA:476126
Coffin-Lowry Syndrome
Kyphosis, Sensorineural hearing impairment, Rectal prolapse, Thick lower lip vermilion, Dental ma... OMIM:303600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Cleft lip, Kyphosis, Cleft palate, Protruding ear, Pulmonic stenosis OMIM:619123
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno... ORPHA:93930
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Kyphosis, Abnormal antiheli... ORPHA:1005
Cole-Carpenter Syndrome 2
Kyphosis, Hydrocephalus, Platyspondyly, High palate, Dentinogenesis imperfecta OMIM:616294
Duane Retraction Syndrome
Short neck, External ear malformation, Ectopic kidney, Sensorineural hearing impairment, Anorecta... ORPHA:233
Atypical Rett Syndrome
Functional abnormality of the gastrointestinal tract, Kyphosis, Scoliosis ORPHA:3095
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti... OMIM:155310
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aganglionic megacolon, Hypospadias, Epispadias, Abnormality of the ear... ORPHA:3339
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Sensorineural hearing... ORPHA:500095
Koolen-De Vries Syndrome Due To A Point Mutation
Fetal pyelectasis, Protruding ear, Vesicoureteral reflux, Renal duplication, Abnormal dental morp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fetal pyelectasis, Protruding ear, Vesicoureteral reflux, Renal duplication, Abnormal dental morp... ORPHA:363958
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Pulmonary artery stenosis, Pulmonic stenosis, Glyco... OMIM:600001
Meckel Syndrome, Type 1
Short neck, Lobulated tongue, Dandy-Walker malformation, Cleft upper lip, Cryptorchidism, Low-set... OMIM:249000
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Cerebrocostomandibular Syndrome
Death in infancy, Multicystic kidney dysplasia, Kyphosis, Cleft palate, Glossoptosis, Atresia of ... ORPHA:1393
Holoprosencephaly 13, X-Linked
Median cleft lip, Vertebral clefting, Submucous cleft hard palate, Cleft palate, Duodenal atresia... OMIM:301043
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Aort... ORPHA:210122
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormality of the kidney, Abnormal stomach morphology, Abnormal lung morpho... ORPHA:141127
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Wide mouth, Ab... ORPHA:2062
Smith-Lemli-Opitz Syndrome
Facial capillary hemangioma, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentra... OMIM:270400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Irregular vertebral endplates, High palate, Widely spaced teeth, Microdontia, Lumbar ... OMIM:143095
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth, Short philtr... OMIM:194190
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Kyphosis, Sensorineural hearing impairment, Hypercalciur... OMIM:239000
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Posteriorly rotated ears, Congenital sensorineural hearing impairment,... OMIM:157800
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, High, ... ORPHA:2658
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Protruding ear, Widely spaced teeth, Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft... ORPHA:268261
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Obesity, Nephrolithiasis, Hypertension, Abdominal obesity, Biconcave vertebral bodies, ... OMIM:219090
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Hydrocephalus, ... OMIM:618476
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Gastroesophageal reflux, C... ORPHA:2044
Restrictive Dermopathy
Thoracic kyphoscoliosis, Natal tooth, Ureteral duplication, Hypospadias, Submucous cleft hard pal... ORPHA:1662
Ramon Syndrome
Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Telangiectasia, Scolio... OMIM:266270
Marinesco-Sjogren Syndrome
Kyphosis, Failure to thrive, Scoliosis OMIM:248800
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Kyphosis, Atrioventricular b... ORPHA:392
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Communicating hydrocephalus, Lumbar hyperlordosis, Kyphoscolio... ORPHA:457359
Cockayne Syndrome B
Renal insufficiency, Abnormal pinna morphology, Small for gestational age, Abnormal auditory evok... OMIM:133540
Cole-Carpenter Syndrome
Delayed eruption of teeth, Communicating hydrocephalus, Abnormal dental enamel morphology, Kyphos... ORPHA:2050
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Posteriorly rotated ears, Kyphosis, Narrow mouth, High palate, Scoliosi... OMIM:618050
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... ORPHA:93360
Spondyloarthropathy, Susceptibility To, 1
Back pain, Aortic regurgitation, Kyphosis, Sacroiliac arthritis, Inflammation of the large intest... OMIM:106300
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Obesity, A... ORPHA:1435
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypospadias, Diastema, Cryptorchidism, Kyphosis, Supernumerary tooth, Agenesis of molar, Scoliosi... OMIM:619718
Exstrophy-Epispadias Complex
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... ORPHA:322
Classic Homocystinuria
Gastrointestinal hemorrhage, Dental crowding, Pulmonary embolism, Kyphosis, Esophageal varix, Int... ORPHA:394
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Abnormal... ORPHA:1606
Gaucher Disease Type 1
Proteinuria, Kyphosis, Abnormal pulmonary interstitial morphology, Hematuria, Gingival bleeding, ... ORPHA:77259
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,... ORPHA:18
Early Infantile Epileptic Encephalopathy
Cleft palate, Ureterocele, Micropenis, Failure to thrive, Renal dysplasia ORPHA:1934
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Abnormal form of the vertebral bodies, Abnormal d... ORPHA:666
Prader-Willi Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Failure to thrive in infancy, Carious... OMIM:176270
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Long uvula, Kyphoscoliosis, Cryptorchidism, Kyphosis, Tooth ma... ORPHA:536532
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Thin upper lip vermilion, Kyphosis, Protruding ear, Downturned corners of mouth, Scoliosis, Absen... OMIM:619557
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Kyphosis, Pulmonic stenosis, Scoliosis OMIM:609008
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Cowden Syndrome
Abnormal penis morphology, Abnormality of the kidney, Kyphosis, Furrowed tongue, Hamartomatous po... ORPHA:201
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis OMIM:618138
Arthrogryposis, Distal, Type 4
Hypoplastic helices, Kyphosis, Scoliosis, Lumbar scoliosis OMIM:609128
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta, Hear... OMIM:166220
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, High, narrow palate, Protruding ear, Abnormal curvature of the vertebral column, Short... OMIM:619475
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cryptorchidism, K... OMIM:300967
Proboscis Lateralis
Unilateral renal agenesis, Agenesis of canine, Orofacial cleft, Ureteral agenesis, Duplication of... ORPHA:141099
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Kyphosis, Sensorineural hearing impairment, High palate, Short philtrum OMIM:609944
Knobloch Syndrome
Vesicoureteral reflux, Pyloric stenosis, Hydrocephalus, Bifid ureter ORPHA:1571
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Scoliosis, Low-set ears, Failure to thrive ORPHA:420794
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Sensorineural hearing impairment, Supernumerary tooth, Aplasia of the inner ear, M... ORPHA:90024
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Cockayne Syndrome A
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... OMIM:216400
Familial Osteodysplasia, Anderson Type
Carious teeth, Kyphosis, Abnormal earlobe morphology, Abnormal form of the vertebral bodies, Larg... ORPHA:2769
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Recurrent pneumonia, Obesity, Thick vermilion border, Scoliosis OMIM:618493
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Hydrocephalus, High, narrow palate, Hypertension, High palate OMIM:616914
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Marfan Syndrome
Spontaneous pneumothorax, Dental crowding, Cachexia, Open bite, Kyphosis, High, narrow palate, Em... ORPHA:558
Mucolipidosis Type Ii
Aortic regurgitation, Recurrent respiratory infections, Abnormal atrioventricular valve physiolog... ORPHA:576
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Small for gestational age, Intestinal malrotation, Pulmonary artery stenosi... ORPHA:2255
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Dysphagia, Scoliosis, Hyperlordosis OMIM:128100
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Den... OMIM:249420
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Abno... ORPHA:3042
Postencephalitic Parkinsonism
Kyphosis, Open mouth, Camptocormia, Dysphagia ORPHA:97349
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Orotic acid crystalluria, Ab... ORPHA:30
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Cleidocranial Dysplasia 1
Hearing impairment, Delayed eruption of primary teeth, Kyphosis, High, narrow palate, Supernumera... OMIM:119600
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Kyphosis, Cleft palate, Chylothorax, Arrhythmia OMIM:153400
Weaver Syndrome
Cryptorchidism, Kyphosis, Hydrocele testis, Lateral ventricle dilatation, Scoliosis, Long philtru... OMIM:277590
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis, Dysphagia OMIM:617143
Peroxisome Biogenesis Disorder 4B
Sensorineural hearing impairment, Ureterocele OMIM:614863
Knobloch Syndrome 1
Duplicated collecting system, Pyloric stenosis, Bifid ureter, Spina bifida occulta, Hydronephrosi... OMIM:267750
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Urinary incontinence, Kyphosis, Dysphagia, Sinus bradycardia, Gastr... OMIM:619482
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis OMIM:617821
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Hypertension, Truncal obesity OMIM:219080
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Gastroesophageal reflux, Dysphagia OMIM:619909
Triosephosphate Isomerase Deficiency
Death in infancy, Kyphosis, Congestive heart failure, Death in adolescence, Failure to thrive OMIM:615512
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Hypertension, Truncal obesity OMIM:610475
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Cockayne Syndrome
Urinary incontinence, Gastroesophageal reflux, Abnormal dental morphology, Cryptorchidism, Renal ... ORPHA:191
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Kyphosis, Hypertension, Truncal obesity OMIM:610489
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... OMIM:619472
Occipital Horn Syndrome
Orthostatic hypotension, Hiatus hernia, Kyphosis, Hydronephrosis, Bladder diverticulum, Platyspon... OMIM:304150
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Short hard palate, Scoliosis ORPHA:1969
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Kyphosis, Protruding ear, Gastroesophageal reflux, Scoliosis OMIM:613454
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Scoliosis, Decreased body weight, Anal atr... OMIM:182210
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Camurati-Engelmann Disease
Delayed eruption of teeth, Cachexia, Hyperlordosis, Carious teeth, Kyphosis, Abnormality of the v... ORPHA:1328
Branchiooculofacial Syndrome
Short neck, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Hypoplastic super... OMIM:113620
Leptospirosis
Hyperproteinemia ORPHA:509
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Gastrointestinal dysmotility, Scoliosis ORPHA:88628
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Kyphosis, Bicarbonaturia, Proximal renal ... OMIM:309000
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... OMIM:203500
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Gastrointestinal inflamma... ORPHA:99413
Turner Syndrome
Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Gastrointestinal inflamma... ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Gastrointestinal inflamma... ORPHA:99228
Monosomy X
Myocardial infarction, Short neck, Ectopic kidney, High, narrow palate, Gastrointestinal inflamma... ORPHA:99226
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Urinary incontinence, Scoliosis ORPHA:88644
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Sensorineural hearing impairment, Irregular vertebr... OMIM:271700
Aspartylglucosaminuria
Recurrent respiratory infections, Aspartylglucosaminuria, Kyphosis, Thick lower lip vermilion, Wi... OMIM:208400
Proteus Syndrome
Abnormal dental enamel morphology, Testicular neoplasm, Sudden cardiac death, Carious teeth, Kyph... ORPHA:744
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Sensorineural hearing impairment, Ileus, Arrhythmia, Microcolon ORPHA:163746
Acromegaly
Dysuria, Abnormality of the dentition, Kyphosis, Thick lower lip vermilion, Wide penis, Spinal ca... ORPHA:963
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Widely spaced teeth OMIM:300942
Occipital Horn Syndrome
Recurrent urinary tract infections, Hiatus hernia, Kyphosis, High, narrow palate, Dysphagia, Blad... ORPHA:198
Yunis-Varon Syndrome
Anterior concavity of thoracic vertebrae, Protruding ear, Short philtrum, High palate, Aspiration... OMIM:216340
Tick-Borne Encephalitis
Back pain, Vertigo, Tongue fasciculations, Dysphagia, Tinnitus, Abnormality of the vestibular ner... ORPHA:297
Somatomammotropinoma
Dysuria, Abnormality of the dentition, Kyphosis, Thick lower lip vermilion, Spinal canal stenosis... ORPHA:314769
Norrie Disease
Failure to thrive, Cachexia, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Ab... ORPHA:649
Osteogenesis Imperfecta, Type Viii
Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenesis imperfecta OMIM:610915
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Wrinkly Skin Syndrome
Delayed eruption of teeth, Carious teeth, Cryptorchidism, Kyphosis, High palate, Scoliosis, Low-s... OMIM:278250
Neurofibromatosis Type 1
Abnormality of the upper urinary tract, Cryptorchidism, Kyphosis, Hearing abnormality, Hydrocepha... ORPHA:636
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Thin upper lip vermilion, Lumbar hyperlordosis, Non-obstructive azoospermia, Cryptorchidism, Kyph... ORPHA:2232
Alström Syndrome
Thoracic scoliosis, Abnormality of dental color, Urinary incontinence, Functional abnormality of ... ORPHA:64
Primrose Syndrome
Calcification of the auricular cartilage, Bilateral cryptorchidism, Cryptorchidism, Kyphosis, Thi... OMIM:259050
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Gastrointestinal stroma tumor, Kyphosis, Abnormal lung morphology, Re... ORPHA:97685
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Autosomal Recessive Spastic Paraplegia Type 35
Pollakisuria, Kyphosis, Urinary incontinence, Enuresis nocturna ORPHA:171629
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106

Histopathology

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

There is no histopathology data for Anp32b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Anp32b.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
ANP32B Deficiency Protects Mice From Lethal Influenza A Virus Challenge by Dampening the Host Immune Response. Frontiers in immunology (March 2020) Anp32btm1c(EUCOMM)Hmgu PMC7083139
The acidic protein rich in leucines Anp32b is an immunomodulator of inflammation in mice. Scientific reports (March 2019) Anp32btm1a(EUCOMM)Hmgu PMC6424966

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MGI Allele Allele Type Produced
Anp32btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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