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Gene: Sptbn1 MGI:98388

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Gene Summary

Name:
spectrin beta, non-erythrocytic 1
Synonyms:
9930031C03Rik,  non-erythrocytic,  spectrin G,  Spnb2,  Spnb-2,  brain spectrin,  elf1,  beta fodrin,  elf3

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Sptbn1tm1a(EUCOMM)Wtsi HET Early adult 1.95×10-05
decreased body weight Sptbn1tm1a(EUCOMM)Wtsi HET Early adult 8.62×10-06
decreased circulating serum albumin level Sptbn1tm1a(EUCOMM)Wtsi HET Early adult 1.03×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 50% (1 of 2)
Mammary gland N/A heterozygote Ambiguous
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 100% (2 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.19% (1 of 515)
aorta 0.0%
blood vessel 0.0%
bone 0.0%
brain 0.75% (4 of 531)
brainstem 0.2% (1 of 507)
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.57% (3 of 529)
cerebral cortex 0.19% (1 of 521)
eye 0.0%
gall bladder 0.0%
heart 0.38% (2 of 521)
hippocampus 0.38% (2 of 531)
hypothalamus 0.38% (2 of 531)
kidney 4.62% (25 of 541)
large intestine 5.61% (29 of 517)
liver 0.0%
lower urinary tract 0.19% (1 of 526)
lung 0.38% (2 of 527)
lymph node 0.19% (1 of 532)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.37% (2 of 538)
ovary 0.19% (1 of 532)
oviduct 0.0%
pancreas 0.98% (5 of 510)
parathyroid gland 0.19% (1 of 517)
peripheral nervous system 0.39% (2 of 515)
peyer's patch 0.65% (1 of 153)
pituitary gland 0.0%
prostate gland 2.09% (11 of 526)
skeletal muscle tissue 0.0%
skin 0.19% (1 of 521)
small intestine 5.48% (29 of 529)
spinal cord 0.57% (3 of 523)
spleen 0.37% (2 of 536)
stomach 3.66% (19 of 519)
striatum 0.39% (2 of 518)
testis 1.14% (6 of 527)
thymus 0.19% (1 of 518)
thyroid gland 2.89% (15 of 519)
trachea 0.57% (3 of 525)
uterus 0.38% (2 of 525)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images
Sptbn1tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Sptbn1tm1a(EUCOMM)Wtsi
body, WT, Female, WTSI
Sptbn1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Sptbn1tm1a(EUCOMM)Wtsi
head, WT, Female, WTSI
Sptbn1tm1a(EUCOMM)Wtsi
forearm, WT, Female, WTSI

View all 120 images

Sptbn1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Sptbn1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Sptbn1tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Sptbn1tm1a(EUCOMM)Wtsi
eye, abnormal pupil morphology, impaired pupillary reflex, abnormal placement of pupils, HET, Female, WTSI
Sptbn1tm1a(EUCOMM)Wtsi
eye, abnormal placement of pupils, HET, Male, WTSI

Human diseases caused by Sptbn1 mutations

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

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

The table below shows human diseases associated to Sptbn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Bicuspid aortic valve, Palpebral edema, Heart murmur, Ventricular septal defect, Aor... OMIM:619475
Non-Specific Syndromic Intellectual Disability
High palate, Conductive hearing impairment, Narrow mouth, Precocious puberty, Disproportionate ta... ORPHA:528084

The table below shows human diseases predicted to be associated to Sptbn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Sparse hair, Hypodontia, Alopecia, Aplasia/Hypoplasia of the eyebrow, Premature... ORPHA:50944
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hyp... ORPHA:2221
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous ... ORPHA:83469
Congenital Macroglossia
Hypothyroidism, Neurofibromas, Abnormal hepatic glycogen storage, Macroglossia ORPHA:2430
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Ovarian Cancer
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma OMIM:167000
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Ovarian neoplasm, Breast carcinoma OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Ovarian neoplasm, Breast carcinoma OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Werner Syndrome
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Hypogonadism, Whi... ORPHA:902
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Nephroblastoma, Thyroid nodule, Embryonal rhabdomyosarcoma, Ovarian the... OMIM:180295
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Enamel hypoplasia, Unilateral vestibular schwannoma, Amelogenes... OMIM:603641
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Cowden Syndrome 1
Hydrocele testis, High palate, Ovarian cyst, Varicocele, Furrowed tongue, Colonic diverticula, Su... OMIM:158350
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Zimmermann-Laband Syndrome
High palate, Wide mouth, Hepatomegaly, Abnormal external genitalia, Cleft palate, Facial hypertri... ORPHA:3473
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Low anterior hairline, Ovarian neoplasm, Sparse h... OMIM:617883
Mast Cell Sarcoma
Sarcoma, Hepatomegaly, Hypoplasia of the ear cartilage, Splenomegaly ORPHA:66661
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Increased serum testosterone level, Hirsutism, Fibrosarcoma, Abnormal end... ORPHA:314478
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Abnormality of the... ORPHA:2591
46,Xy Sex Reversal 10
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Gonadoblastoma, Decreased testicular... OMIM:616425
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Lymphoma, Renal insufficiency, Sarcoma ORPHA:454
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma, Yellow nails, Nail dystrophy, Lip hyperpigmentation ORPHA:166113
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Posterior helix pit, Diastasis recti, Hepatomegaly, Hepatoblastoma, Renal cortic... OMIM:130650
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Emphyse... OMIM:618913
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... ORPHA:137608
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceride... OMIM:246700
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Torticollis, Precocious puberty, Ovarian neoplasm, Peripheral primitive... ORPHA:370348
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... OMIM:619868
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocorticotropic hormone deficiency, Paradoxical increased cortisol secre... ORPHA:1501
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Malabsorption, Ovarian neopl... ORPHA:144
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Increased circulating insulin-like... ORPHA:1359
Lhermitte-Duclos Disease
Ovarian neoplasm, Macroglossia, Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroi... ORPHA:65285
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture OMIM:122850
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... ORPHA:1333
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Precocious puberty, Hemangioma, Multiple enchondromatosis... ORPHA:296
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Peritonitis, Gonadal calcification, Basal ce... ORPHA:314473
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Frasier Syndrome
Ovarian gonadoblastoma, Nephrotic syndrome, Male pseudohermaphroditism, Gonadal dysgenesis, Focal... OMIM:136680
Coffin-Siris Syndrome 2
High palate, Wide mouth, Abnormal pinna morphology, Cleft palate, Short philtrum, Delayed eruptio... OMIM:614607
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Decreased serum e... OMIM:615723
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter, Nail dystrophy, Alopecia OMIM:618373
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circula... ORPHA:103910
Legius Syndrome
Nephrolithiasis, Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmo... ORPHA:137605
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
46,Xy Sex Reversal 6
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... OMIM:613762
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... ORPHA:251510
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Abnormal hair quantity, ... ORPHA:457059
Yellow Nail Syndrome
Neoplasm, Yellow nails, Renal neoplasm, Toenail dysplasia, Neoplasm of the lung, Fingernail dyspl... ORPHA:662
Familial Male-Limited Precocious Puberty
Precocious puberty, Tall stature, Oligospermia, Long penis, Abnormal hair morphology, Macroorchidism ORPHA:3000
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Myocardial fibrosis, Pleural thickening, Sub... ORPHA:2302
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomyopathy ORPHA:1909
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Alopecia, Hypergonadotropic hypogonadism, Micropenis, Woolly scalp hair, Decreased t... OMIM:601217
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrotia, Cardiomegaly, Macroorchidism OMIM:300886
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Beckwith-Wiedemann Syndrome
Posterior helix pit, Exocrine pancreatic insufficiency, Wide mouth, Hepatomegaly, Hepatoblastoma,... ORPHA:116
Schopf-Schulz-Passarge Syndrome
Sparse hair, Hypodontia, Onycholysis, Squamous cell carcinoma, Basal cell carcinoma, Poroma, Ridg... OMIM:224750
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Macrotia, Obesity, Bilateral sensorineural hearing impairment, Thick lower lip ve... OMIM:300238
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth agenesis, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, To... ORPHA:2722
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Congenital Generalized Lipodystrophy
Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Hypertrichosis, Low anterior hairl... ORPHA:528
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Camptodactyly of finger ORPHA:1937
Down Syndrome
Conductive hearing impairment, Anal atresia, Type II diabetes mellitus, Narrow mouth, Sparse hair... ORPHA:870
Costello Syndrome
Large earlobe, Papilloma, Hypoplastic toenails, Narrow palate, Woolly hair, Macroglossia, Pulmoni... ORPHA:3071
Porphyria Cutanea Tarda
Alopecia, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis, Porphyrinuria, Onycholysis OMIM:176100
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Lujan-Fryns Syndrome
High palate, Protruding ear, Atrial septal defect, Disproportionate tall stature, Abnormality of ... ORPHA:776
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Oral mucosal blisters, Oral ulcer, Sarcoma ORPHA:63455
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Denys-Drash Syndrome
Ovarian gonadoblastoma, Ambiguous genitalia, female, Nephrotic syndrome, Ambiguous genitalia, mal... OMIM:194080
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hematuria, Sarcoma ORPHA:69077
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Cronkhite-Canada Syndrome
Hypoplastic toenails, Neoplasm, Malabsorption, Hepatomegaly, Patchy alopecia, Stomach cancer, Spl... ORPHA:2930
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Alopecia, Sparse hair... OMIM:275400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Left ventricular hypertrophy, Macro... OMIM:613156
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Aa Amyloidosis
Adrenal insufficiency, Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Malabsorption, A... ORPHA:85445
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Ragged-red muscle fib... ORPHA:254864
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Familial Adenomatous Polyposis 1
Hepatoblastoma, Adrenocortical adenoma, Carious teeth, Odontoma, Small intestine carcinoid, Adren... OMIM:175100
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Abnormality of the dentition, Odontoma, Small intestine c... ORPHA:79665
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Breast carcinoma, Decreased circulating cortisol level, Mal... ORPHA:90790
Liposarcoma
Abnormality of the kidney, Sarcoma ORPHA:69078
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Xp22.13P22.2 Duplication Syndrome
High palate, Sparse hair, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infe... ORPHA:284180
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Type II diabetes mellitus, Hepatomegaly, Abnormal helix... ORPHA:61
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... OMIM:249670
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Tr... ORPHA:100079
Cowden Syndrome
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... ORPHA:201
Triploidy
Abnormal cardiac septum morphology, Wide mouth, Narrow mouth, Hepatomegaly, Hypoplasia of penis, ... ORPHA:3376
Zimmermann-Laband Syndrome 2
Sensorineural hearing impairment, Hypertrichosis, Hirsutism, Thick eyebrow, Gingival overgrowth, ... OMIM:616455
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Macroorchidism, Tall stature, Prominent median palatal rap... OMIM:300602
Coffin-Siris Syndrome 3
Sparse scalp hair, Wide mouth, Hypertrichosis, Hirsutism, Thick eyebrow, Sparse hair, Macroglossi... OMIM:614608
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Tented upper lip vermilion, Synophrys, Open mouth, Dental crowding, Macroorchidism OMIM:300143
Large Congenital Melanocytic Nevus
Neoplasm, Generalized hirsutism, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin ORPHA:626
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Alopecia, Splenomegaly, Lymphoma, Abnormality of the small intestine... ORPHA:100025
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Wide mouth, Abnormal pinna morphology, Macroglossia, Micropenis, Hypospadias, ... OMIM:300354
17Q11.2 Microduplication Syndrome
Sparse eyebrow, Sparse eyelashes, Thin vermilion border, Enamel hypoplasia, Abnormal dental ename... ORPHA:139474
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Megalencephaly
Atrial septal defect, Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Mccune-Albright Syndrome
Pancreatitis, Abnormal endocrine physiology, Benign gastrointestinal tract tumors, Ovarian cyst, ... ORPHA:562
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Premature loss of permanent teeth, Ambiguous... OMIM:610644
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Breast carcinoma, Alopecia, Carious teeth, Enamel hypoplasia, Ridged nail OMIM:614564
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Macroorchidism, Tall stature, Prominent median palatal rap... OMIM:300431
Trisomy 20P
Abnormal antihelix morphology, Abnormality of the dentition, Coarse hair, Abnormality of the uret... ORPHA:261318
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Ventricul... OMIM:253300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Everted lower lip vermilion, Overfolded helix, Mitral valve prolapse, Cont... ORPHA:324410
Erythrokeratodermia Variabilis
Protruding ear, Generalized hirsutism, Alopecia, Abnormal testis morphology, Diabetes mellitus, H... ORPHA:317
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma, Tinnitus, Decreased circulating renin level, Glucocorto... ORPHA:231632
Mitochondrial Myopathy, Infantile, Transient
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Ragged-red muscle fibers, Increase... OMIM:500009
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Macroglossia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Abnor... ORPHA:99886
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Intellectual Developmental Disorder, X-Linked 2
High palate, Macroorchidism OMIM:300428
Autosomal Recessive Spastic Paraplegia Type 18
High palate, Wide mouth, Abnormal pinna morphology, Hip contracture, Thick eyebrow, Ankle flexion... ORPHA:209951
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Coffin-Siris Syndrome 4
Sparse scalp hair, Wide mouth, Hirsutism, Hypertrichosis, Thick eyebrow, Macroglossia, Long eyela... OMIM:614609
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Atypical Werner Syndrome
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Neoplasm of the small intestine, Glycosuria, Neopla... ORPHA:79474
Functioning Gonadotropic Adenoma
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... ORPHA:91348
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Pulmonary hypoplasia, Esophagea... ORPHA:731
Trisomy 17P
High palate, Wide mouth, Cleft palate, Skeletal muscle atrophy, Hypoplasia of penis, Flexion cont... ORPHA:261290
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Oligohydramnios OMIM:617021
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
High palate, Wide mouth, Abnormal pinna morphology, Thick eyebrow, Macroglossia, Short philtrum, ... ORPHA:280384
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Low anterior hairline, Cryptorchidism, Macroglossia, Open mouth, Arthrog... ORPHA:369891
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypogonadotropic hypogonadis... OMIM:235200
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Hypertrichosis, Hepatosplenomegaly, Hypothyroidism, Fibroma, Deep philtrum, Recurren... OMIM:619750
Monosomy 22
High palate, Sparse hair, Micropenis, Aplasia of the thymus, Thin vermilion border, Hepatosplenom... ORPHA:96123
Oculoskeletodental Syndrome
Low anterior hairline, Hepatomegaly, Cryptorchidism, Macroglossia, Splenomegaly, Renal agenesis, ... OMIM:618440
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Proteinuria, Nephrotic syndrome, Flex... OMIM:617303
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Diaphanospondylodysostosis
Cleft palate, Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidne... OMIM:608022
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Abnormal pinna morphology, Persistence of primary teeth, Macrogloss... OMIM:610253
X-Linked Intellectual Disability, Shashi Type
Obesity, Macrotia, Everted lower lip vermilion, Macroorchidism ORPHA:85286
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Overfolded helix, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... OMIM:605676
Primary Pigmented Nodular Adrenocortical Disease
Alopecia, Increased body weight, Cutaneous myxoma, Abdominal obesity, Nephrolithiasis, Pigmented ... ORPHA:189439
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Alopecia, Lymphoma, Abnormality of the nai... ORPHA:2584
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Hepatic f... ORPHA:158057
Simpson-Golabi-Behmel Syndrome
Wide mouth, Hepatomegaly, Hepatoblastoma, Abnormal helix morphology, Tall stature, Cleft palate, ... ORPHA:373
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Cryptorchidism, Macroglossia, Everted lower lip vermilion, Open mouth, Transposition ... OMIM:616789
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Crandall Syndrome
Sensorineural hearing impairment, Pili torti, Hypoplasia of penis, Brittle hair, Alopecia, Sparse... ORPHA:202
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... OMIM:616827
Rabson-Mendenhall Syndrome
High palate, Hypertrichosis, Abnormality of the dentition, Advanced eruption of teeth, Long penis... ORPHA:769
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Nail dystrophy, Long philtrum, Carcinoma OMIM:615225
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, S... ORPHA:733
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormality of the dent... ORPHA:1008
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Proteus Syndrome
Lymphangioma, Ovarian neoplasm, Disproportionate tall stature, Neoplasm of the thymus, Long penis... ORPHA:744
Kleefstra Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Ventricular septal defect, Pyloric stenosi... ORPHA:261494
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Elevated circulating growth hormone concentration, Enlarged kidney, Insulin-resistant ... ORPHA:90301
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sensorineural hearing impairment, Abnormality of the tongue, Sparse hair, Hypodontia, Alopecia, A... ORPHA:659
Thauvin-Robinet-Faivre Syndrome
Sensorineural hearing impairment, Tall stature, Macroglossia, Nephroblastoma, Overgrowth, Bifid u... OMIM:617107
Intellectual Developmental Disorder, X-Linked, Syndromic 13
High palate, Flexion contracture, Wrist flexion contracture, Male hypogonadism, Macrotia, Obesity... OMIM:300055
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Basal Cell Nevus Syndrome
Cleft upper lip, Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, Rhabdomyoma, ... OMIM:109400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Macroorchidism, Sparse eyebrow, Sparse eyelashes, Hypospadias, Bilateral cleft lip a... OMIM:618874
Fragile X Syndrome
Mitral valve prolapse, Macroorchidism, postpubertal, Congenital macroorchidism, Macrotia OMIM:300624
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Monosomy 9Q22.3
Low-set ears, Narrow mouth, Medulloblastoma, Thickened ears, Tall stature, Odontogenic keratocyst... ORPHA:77301
Perlman Syndrome
Low-set ears, Congenital diaphragmatic hernia, Long upper lip, Nephrogenic rest, Open mouth, Neph... OMIM:267000
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Cryptorchidism, Hypoplasia of penis, E... ORPHA:96147
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Abnormally folded helix, Atrial septal defect, Disproportionate tall stature, Tall s... OMIM:309520
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Macroglossia, Skeletal muscle hypertrophy, Hypothyroidism, Jaundice, Myopathy ORPHA:2349
Alg6-Cdg
Jaundice, Macroglossia, Protein-losing enteropathy, Low-set ears, Puberty and gonadal disorders, ... ORPHA:79320
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Flexion contracture, Alopecia, Hypodontia, ... OMIM:612079
Terminal Osseous Dysplasia
Multiple joint contractures, Cleft palate, Camptodactyly of toe, Camptodactyly of finger, Fibroma... OMIM:300244
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:615297
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Ectopic anus, Narrow palate, Ova... ORPHA:87
Desmoid Tumor
Malabsorption, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal obstruction, Fi... ORPHA:873
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Microtia, Nephroblastoma, Multiple lipomas, Ovarian serous cystadenoma, Enlarge... ORPHA:276280
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus ORPHA:79094
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect, Arthrogryposis... OMIM:614262
Candidiasis, Familial, 1
Premature loss of teeth, Abnormality of the endocrine system, Alopecia OMIM:114580
Congenital Disorder Of Deglycosylation 2
High palate, Macroglossia, Microtia, Cleft earlobe, Hypothalamic hamartoma, Hamartoma of tongue, ... OMIM:619775
Crouzon Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Dysgerminoma, Dental crowding OMIM:123500
H Syndrome
Cleft upper lip, Abnormal eyebrow morphology, Hypertrichosis, Malabsorption, Gingival overgrowth,... ORPHA:168569
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Hepatomegaly, Abnormal helix morphology, Ventricular septal defect, Clitoral hypertr... OMIM:214100
Long Qt Syndrome 16
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... OMIM:618782
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Arthrogryposis multiplex conge... OMIM:607598
47,Xyy Syndrome
Low-set ears, Increased serum testosterone level, Cryptorchidism, Tall stature, Micropenis, Hypos... ORPHA:8
Cardiomyopathy, Familial Hypertrophic, 4
Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block, Ventricular ... OMIM:115197
Tuberous Sclerosis 2
Optic nerve glioma, Cortical tubers, Absence of renal corticomedullary differentiation, Retinal h... OMIM:613254
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Alopecia totalis ORPHA:1014
Schinzel-Giedion Midface Retraction Syndrome
Hypertrichosis, Atrial septal defect, Hepatoblastoma, Teratoma, Micropenis, Bicornuate uterus, Hy... OMIM:269150
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Spinocerebellar Ataxia, Autosomal Recessive 20
Sensorineural hearing impairment, High palate, Hypertrichosis, Dental crowding, Macroglossia, Lon... OMIM:616354
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Abnormal pinna morphology, Hypertrichosis, Hepatomegaly... OMIM:618268
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Hepatomegaly, Pancreatic fibrosis, Cystic renal dys... OMIM:200995
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair ORPHA:505
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Schinzel-Giedion Syndrome
High palate, Wide mouth, Abnormal helix morphology, Hepatoblastoma, Infantile sensorineural heari... ORPHA:798
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Tuberous Sclerosis 1
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... OMIM:191100
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Steinert Myotonic Dystrophy
Cholelithiasis, Facial diplegia, Testicular atrophy, Hyperinsulinemia, Alopecia, Hypergonadotropi... ORPHA:273
Fragile X Syndrome
Mitral valve prolapse, Protruding ear, Macroorchidism ORPHA:908
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... ORPHA:95716
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Alopecia, Lymphoproliferative disorder, Recurrent... OMIM:615559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Scapular winging,... OMIM:616052
Alg9-Cdg
Wide mouth, Hypertrichosis, Hepatomegaly, Hypoplasia of the bladder, Hepatic cysts, Enlarged kidn... ORPHA:79328
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Endocrine-Cerebroosteodysplasia
Cleft upper lip, Sex reversal, Abnormal pinna morphology, Low-set ears, Cleft palate, Micropenis,... OMIM:612651
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Congenital Hypothyroidism
Nephrolithiasis, Abnormality of the thyroid gland, Prolonged neonatal jaundice, Abnormal pericard... ORPHA:442
Cerebellar Ataxia And Ectodermal Dysplasia
Agenesis of permanent teeth, Sparse hair, Alopecia OMIM:212835
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Periodontitis, Congenital alopecia totalis OMIM:104130
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... ORPHA:618
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... ORPHA:1209
Ventricular Septal Defect 3
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Alg3-Cdg
High palate, Decreased liver function, Abnormal pinna morphology, Abnormality of the endocrine sy... ORPHA:79321
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Anal atresia, Cleft palate, Micropenis, Intestinal malrotation, Bifid tongue, En... OMIM:613091
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Abnormal hair quantity, Breast carcinoma, Gastrointestinal stroma ... ORPHA:221
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Hypertrichosis, Wide mouth, Hepatomegaly, Hepatoblastoma, Tall stature, Shor... OMIM:312870
Parc Syndrome
Cleft palate, Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Alopecia, Lymphoma, Abnormal pleura morpho... ORPHA:3162
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:95717
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Multipl... ORPHA:220460
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration, Macroorchidism OMIM:264120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, EMG: myopathic abnormal... OMIM:608840
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Renpenning Syndrome
Sensorineural hearing impairment, Anal atresia, Narrow mouth, Abnormal hairshaft morphology, High... ORPHA:3242
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Macroglossia, Congenital hypothyroidism, Delayed eruptio... OMIM:614450
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Pedal edema, Patent ductus arteriosus OMIM:126320
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... ORPHA:44890
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Al Amyloidosis
Abnormal cardiac ventricle morphology, Hepatomegaly, Nephrotic syndrome, Macroglossia, Renal inte... ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Shoulder ... OMIM:606612
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Pheochromocytoma, Jaundice OMIM:162240
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Rhabdomyolysis, Hepatomegaly, Macroglossia OMIM:251900
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Permanent Congenital Hypothyroidism
Macroglossia, Thyroid dysgenesis, Hypothyroidism, Goiter, Jaundice ORPHA:226292
Dyskeratosis Congenita, Autosomal Dominant 1
Premature loss of teeth, Premature graying of hair, Sparse hair, Alopecia, Cirrhosis, Interstitia... OMIM:127550
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Partington Syndrome
Macroorchidism ORPHA:94083
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Thyroid Hemiagenesis
Thyroid agenesis, Jaundice, Macroglossia ORPHA:95719
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Dyskeratosis Congenita, X-Linked
Alopecia, Carious teeth, Horseshoe kidney, Carcinoma, Cirrhosis, Decreased testicular size, Pulmo... OMIM:305000
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Macroglossia, Congenital hypothyroidism, Large for gestat... ORPHA:226313
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Hypoinsulinemia, Prostate ca... ORPHA:2126
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Mulibrey Nanism
Myocardial fibrosis, Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Recurrent low... OMIM:253250
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sensorineural hearing impairment, Sparse hair, Alopecia, Long philtrum, Hypothyroidism, Low-set e... OMIM:617763
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Sensorineural hearing impairment, Protruding ear, Macroglossia, Proportionate tall stature, Nephr... ORPHA:500095
Gm1 Gangliosidosis
Hirsutism, Generalized hirsutism, Narrow mouth, Gingival overgrowth, Macroglossia, Splenomegaly, ... ORPHA:354
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Anauxetic Dysplasia 2
Nail dysplasia, Hypodontia, Sparse hair, Flexion contracture, Macroglossia, Small nail OMIM:617396
Rothmund-Thomson Syndrome, Type 2
High palate, Sparse hair, Sparse eyebrow, Alopecia, Overfolded helix, Delayed eruption of teeth, ... OMIM:268400
Kaposiform Lymphangiomatosis
Papilloma, Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple r... ORPHA:464329
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Multiple joint contractures, Neoplasm, Selective tooth agenesis, Decrea... ORPHA:2959
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Craniofaciofrontodigital Syndrome
Hypertrichosis, Low anterior hairline, Atrial septal defect, Bicuspid aortic valve, Aortic valve ... ORPHA:363705
Dyskeratosis Congenita
Hepatomegaly, Sparse hair, Hepatic failure, Alopecia, Abnormality of the dentition, Tracheoesopha... ORPHA:1775
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity, Macroorchidism ORPHA:3077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Facial pals... OMIM:613155
Pontocerebellar Hypoplasia, Type 9
Short upper lip, Abnormal pinna morphology, Facial hypotonia, Macroglossia OMIM:615809
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Gingival overgrowth, Hepatomegaly, Cryptorchidism, Macroglossia, Hig... OMIM:618143
Mucopolysaccharidosis, Type Vii
Sensorineural hearing impairment, Hirsutism, Gingival overgrowth, Hepatomegaly, Thick eyebrow, Ch... OMIM:253220
Mastocytosis
Hepatomegaly, Splenomegaly, Sarcoma, Chronic leukemia, Acute leukemia ORPHA:98292
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Sparse hair, Absent eyebrow, Microtia, Micropenis,... OMIM:147770
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Atrial septal defect ORPHA:3469
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... ORPHA:2869
Mucopolysaccharidosis, Type Iiid
Wide mouth, Hirsutism, Hepatomegaly, Thick eyebrow, Macroglossia, Splenomegaly, Facial hirsutism,... OMIM:252940
Bresek Syndrome
Protruding ear, Cryptorchidism, Cleft palate, Alopecia, Hypoplasia of the bladder, Renal dysplasi... ORPHA:85284
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormal pinna morphology, Atrial septal defect, Brittle hair, Alopecia, Everted lower lip vermil... ORPHA:75389
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Supernumerary nipple, Macroglossia, Microtia, Micropenis, Hypospadias, Long philtrum... OMIM:141750
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Wide mouth, Attached earlobe, Prominent crus of helix, Microdontia, Unilateral renal agenesis, Th... OMIM:619194
Mucopolysaccharidosis, Type Ii
Hypertrichosis, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Hepatosplenomegaly... OMIM:309900
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephro... OMIM:145001
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... OMIM:242150
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189427
Mmep Syndrome
Ventricular septal defect ORPHA:3434
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Ichthyosis, Hystrix-Like, With Deafness
Sensorineural hearing impairment, Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Squamous c... OMIM:602540
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... ORPHA:449395
Papillon-Lefèvre Syndrome
Hypertrichosis, Generalized hirsutism, Tooth agenesis, Periodontitis, Sparse body hair, Abnormali... ORPHA:678
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... ORPHA:587
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormality of the dentition, Melanoma, Basal cell carcinoma, Decreas... OMIM:620040
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Sensorineural hearing impairment, High palate, Dental crowding, Atrial septal defect, Oligosaccha... ORPHA:397709
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Protruding ear, Sparse hair, Alopecia, Everted lower lip vermilion, Onychogryposis of fingernail,... ORPHA:2251
Oncogenic Osteomalacia
Renal phosphate wasting, Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head ... ORPHA:352540
Deafness-Craniofacial Syndrome
Short lingual frenulum, Hearing impairment, Alopecia OMIM:125230
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Orofaciodigital Syndrome I
High palate, Sparse hair, Cleft palate, Hypothalamic hamartoma, Ovarian cyst, Alopecia, Dry hair,... OMIM:311200
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Sensorineural hearing impairment, Low-set ears, U-Shaped upper lip vermilion, Macroglossia, Micro... OMIM:301040
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Hepatomegaly, Alopecia, Delayed puberty, Skeletal muscle atrophy, Pulmonary fibrosis OMIM:615704
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Pancreatitis, Hepatocellular adenoma, Enlarged kidney, Carious teeth, Proteinuria, ... ORPHA:79259
Nicolaides-Baraitser Syndrome
Wide mouth, Sparse hair, High, narrow palate, Alopecia, Everted lower lip vermilion, Thin vermili... ORPHA:3051
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Wide mouth, Cleft palate, Hemangioma, Eclabion, Limb hypertonia, Short philtrum, Microdontia, Hor... OMIM:619950
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Bilateral b... ORPHA:52901
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia OMIM:188150
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... OMIM:602088
Leprechaunism
Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hypertrichosis, Increased circulating reni... ORPHA:508
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect ORPHA:1388
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Flexion contracture, Alopecia, Hypergonadotropic hypogonadism, Sparse body hai... ORPHA:2850
Neurofibromatosis Type 1
Chronic myelogenous leukemia, Tall stature, Abnormality of the upper urinary tract, Leukemia, Men... ORPHA:636
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Meacham Syndrome
Blind vagina, Congenital alveolar dysplasia, Enlarged kidney, Ventricular septal defect, Pulmonar... OMIM:608978
Milroy Disease
Hydrocele testis, Toenail dysplasia, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Wide mouth, Hepatomegaly, Nephronophthisis, Microdontia, Cholestasis, Pancreatic cys... OMIM:266920
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Tyrosinemia, Type I
Paralytic ileus, Hepatomegaly, Hepatic failure, Acute hepatic failure, Cirrhosis, Splenomegaly, H... OMIM:276700
Down Syndrome
Double outlet right ventricle, Conductive hearing impairment, Anal atresia, Atrial septal defect,... OMIM:190685
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... ORPHA:2325
Costello Syndrome
High palate, Sparse hair, Ventricular septal defect, Pyloric stenosis, Curly hair, Achilles tendo... OMIM:218040
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Sensorineural hearing impairment, Pancreatic cysts, Papillary cystadeno... OMIM:193300
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Wide mouth, Gingival overgrowth, Progressive alveolar ridge hypertropy, Hepatome... OMIM:252500
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... OMIM:601927
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Nail dysplasia, Narrow mouth, Oral mucosal blisters, Flexion contracture, Alopecia, Abnormal esop... OMIM:226600
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, C... ORPHA:49827
Noonan Syndrome 12
Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis, Tetralogy of Fallot OMIM:618624
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Macroglossia OMIM:274400
Aromatase Deficiency
Generalized hirsutism, Ambiguous genitalia, female, Type II diabetes mellitus, Tall stature, Hype... ORPHA:91
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... ORPHA:1332
Carney Complex, Type 1
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Hirsutis... OMIM:160980
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992